ClinVar Miner

List of variants in gene HYDIN studied for not provided

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Gene type:
ClinVar version:
Total variants: 237
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HGVS dbSNP gnomAD frequency
NM_001270974.2(HYDIN):c.7364C>A (p.Pro2455Gln) rs1798531 0.99691
NM_001270974.2(HYDIN):c.6917A>G (p.Glu2306Gly) rs2502726 0.57263
NM_001270974.2(HYDIN):c.-82A>T rs12449210 0.40012
NM_001270974.2(HYDIN):c.4475C>A (p.Pro1492His) rs78763837 0.38686
NM_001270974.2(HYDIN):c.1077T>C (p.Asp359=) rs4788770 0.28759
NM_001270974.2(HYDIN):c.-120T>C rs3743953 0.11686
NM_001270974.2(HYDIN):c.44T>C (p.Met15Thr) rs75270082 0.03910
NM_001270974.2(HYDIN):c.1044-18A>C rs11866288 0.02153
NM_001270974.2(HYDIN):c.131G>A (p.Arg44Gln) rs113448164 0.00384
NM_001270974.2(HYDIN):c.9248+17C>G rs150471373 0.00322
NM_001270974.2(HYDIN):c.14857C>T (p.Arg4953Trp) rs79607350 0.00208
NM_001270974.2(HYDIN):c.11638G>A (p.Asp3880Asn) rs199690569 0.00153
NM_001270974.2(HYDIN):c.9223C>T (p.Arg3075Cys) rs199706377 0.00149
NM_001270974.2(HYDIN):c.12899G>C (p.Cys4300Ser) rs200169224 0.00127
NM_001270974.2(HYDIN):c.10072G>A (p.Gly3358Arg) rs200455187 0.00094
NM_001270974.2(HYDIN):c.6557G>C (p.Gly2186Ala) rs191539779 0.00056
NM_001270974.2(HYDIN):c.2768+22G>A rs6499399 0.00044
NM_001270974.2(HYDIN):c.488G>A (p.Arg163Gln) rs201503269 0.00042
NM_001270974.2(HYDIN):c.5446C>T (p.Arg1816Cys) rs372141489 0.00028
NM_001270974.2(HYDIN):c.11431C>T (p.Arg3811Cys) rs111706881 0.00016
NM_001270974.2(HYDIN):c.6934G>A (p.Glu2312Lys) rs377154564 0.00014
NM_001270974.2(HYDIN):c.2974G>A (p.Ala992Thr) rs370020334 0.00009
NM_001270974.2(HYDIN):c.8736C>T (p.Cys2912=) rs1484380849 0.00007
NM_001270974.2(HYDIN):c.10385G>A (p.Arg3462Gln) rs754107193 0.00003
NM_001270974.2(HYDIN):c.8905C>T (p.Arg2969Trp) rs372194968 0.00002
NM_001270974.2(HYDIN):c.1030A>T (p.Arg344Ter) rs553497343 0.00001
NM_001270974.2(HYDIN):c.2750A>G (p.Asn917Ser) rs779147589 0.00001
NM_001270974.2(HYDIN):c.8863G>A (p.Val2955Ile) rs2076366307 0.00001
GRCh37/hg19 16q22.2(chr16:70983768-71201052)x1
NM_001270974.2(HYDIN):c.10068G>A (p.Glu3356=)
NM_001270974.2(HYDIN):c.10083C>T (p.Phe3361=)
NM_001270974.2(HYDIN):c.10086C>T (p.Val3362=)
NM_001270974.2(HYDIN):c.10115A>G (p.Asn3372Ser)
NM_001270974.2(HYDIN):c.10137del (p.Lys3380fs) rs1597213253
NM_001270974.2(HYDIN):c.1051GAT[1] (p.Asp352del)
NM_001270974.2(HYDIN):c.10524C>G (p.Leu3508=)
NM_001270974.2(HYDIN):c.10528C>T (p.Leu3510Phe)
NM_001270974.2(HYDIN):c.10541G>A (p.Gly3514Asp)
NM_001270974.2(HYDIN):c.10572G>T (p.Leu3524=)
NM_001270974.2(HYDIN):c.10619C>T (p.Ala3540Val)
NM_001270974.2(HYDIN):c.10694C>T (p.Ser3565Phe)
NM_001270974.2(HYDIN):c.10782C>T (p.Asn3594=)
NM_001270974.2(HYDIN):c.10806C>T (p.Ile3602=)
NM_001270974.2(HYDIN):c.10816G>T (p.Gly3606Ter) rs1567744830
NM_001270974.2(HYDIN):c.10860A>G (p.Gly3620=)
NM_001270974.2(HYDIN):c.10869C>G (p.Ala3623=)
NM_001270974.2(HYDIN):c.10922A>G (p.Asp3641Gly)
NM_001270974.2(HYDIN):c.10923C>T (p.Asp3641=)
NM_001270974.2(HYDIN):c.10973T>G (p.Phe3658Cys)
NM_001270974.2(HYDIN):c.11173C>T (p.Arg3725Trp)
NM_001270974.2(HYDIN):c.11306G>A (p.Arg3769Gln)
NM_001270974.2(HYDIN):c.11321C>T (p.Thr3774Met)
NM_001270974.2(HYDIN):c.11328G>A (p.Pro3776=)
NM_001270974.2(HYDIN):c.11332C>A (p.Pro3778Thr)
NM_001270974.2(HYDIN):c.11373G>A (p.Gln3791=)
NM_001270974.2(HYDIN):c.11463A>C (p.Arg3821=)
NM_001270974.2(HYDIN):c.1146_1147del (p.Arg383fs) rs2144512684
NM_001270974.2(HYDIN):c.11472-2A>G rs200565025
NM_001270974.2(HYDIN):c.11475C>T (p.Phe3825=)
NM_001270974.2(HYDIN):c.11494C>T (p.Arg3832Cys)
NM_001270974.2(HYDIN):c.11632A>C (p.Thr3878Pro)
NM_001270974.2(HYDIN):c.11811G>A (p.Pro3937=)
NM_001270974.2(HYDIN):c.11883T>C (p.Ser3961=)
NM_001270974.2(HYDIN):c.11931G>A (p.Leu3977=)
NM_001270974.2(HYDIN):c.11979G>T (p.Gly3993=)
NM_001270974.2(HYDIN):c.12121A>G (p.Lys4041Glu)
NM_001270974.2(HYDIN):c.12129+60G>A rs1798319
NM_001270974.2(HYDIN):c.12196G>A (p.Glu4066Lys)
NM_001270974.2(HYDIN):c.12249C>T (p.Leu4083=)
NM_001270974.2(HYDIN):c.12333G>A (p.Lys4111=)
NM_001270974.2(HYDIN):c.12360C>T (p.Phe4120=)
NM_001270974.2(HYDIN):c.12382G>C (p.Glu4128Gln)
NM_001270974.2(HYDIN):c.12417G>A (p.Met4139Ile)
NM_001270974.2(HYDIN):c.12608C>T (p.Thr4203Ile)
NM_001270974.2(HYDIN):c.1267G>A (p.Val423Met)
NM_001270974.2(HYDIN):c.12811G>A (p.Ala4271Thr)
NM_001270974.2(HYDIN):c.12846_12847del (p.Leu4283fs) rs1064795912
NM_001270974.2(HYDIN):c.12900C>T (p.Cys4300=)
NM_001270974.2(HYDIN):c.13043+7_13043+10dup
NM_001270974.2(HYDIN):c.13242+8_13242+11del rs1567682283
NM_001270974.2(HYDIN):c.1328-11T>A
NM_001270974.2(HYDIN):c.13432A>G (p.Thr4478Ala)
NM_001270974.2(HYDIN):c.13435C>A (p.Leu4479Met)
NM_001270974.2(HYDIN):c.13479G>A (p.Pro4493=)
NM_001270974.2(HYDIN):c.13538G>A (p.Arg4513His)
NM_001270974.2(HYDIN):c.13614C>G (p.Pro4538=)
NM_001270974.2(HYDIN):c.13679+6G>C
NM_001270974.2(HYDIN):c.13794G>A (p.Val4598=)
NM_001270974.2(HYDIN):c.13924C>A (p.Arg4642Ser)
NM_001270974.2(HYDIN):c.13938G>A (p.Thr4646=)
NM_001270974.2(HYDIN):c.13988C>T (p.Pro4663Leu)
NM_001270974.2(HYDIN):c.14252C>T (p.Thr4751Ile)
NM_001270974.2(HYDIN):c.1449G>A (p.Ala483=)
NM_001270974.2(HYDIN):c.14613C>T (p.Pro4871=)
NM_001270974.2(HYDIN):c.14619C>T (p.Ile4873=)
NM_001270974.2(HYDIN):c.14623C>G (p.Leu4875Val)
NM_001270974.2(HYDIN):c.1470C>T (p.Ser490=)
NM_001270974.2(HYDIN):c.14742C>G (p.Tyr4914Ter) rs2035357091
NM_001270974.2(HYDIN):c.14884-4dup
NM_001270974.2(HYDIN):c.1491G>C (p.Met497Ile)
NM_001270974.2(HYDIN):c.15209G>A (p.Arg5070Gln)
NM_001270974.2(HYDIN):c.15357C>A (p.Ile5119=)
NM_001270974.2(HYDIN):c.177C>T (p.Thr59=)
NM_001270974.2(HYDIN):c.1855C>T (p.His619Tyr)
NM_001270974.2(HYDIN):c.1865A>G (p.Tyr622Cys)
NM_001270974.2(HYDIN):c.1897T>G (p.Ser633Ala)
NM_001270974.2(HYDIN):c.1993A>C (p.Thr665Pro)
NM_001270974.2(HYDIN):c.2057C>T (p.Ala686Val)
NM_001270974.2(HYDIN):c.2075+40G>C
NM_001270974.2(HYDIN):c.212G>A (p.Arg71Gln) rs529769407
NM_001270974.2(HYDIN):c.215del (p.Pro72fs)
NM_001270974.2(HYDIN):c.2176G>C (p.Asp726His)
NM_001270974.2(HYDIN):c.2177A>G (p.Asp726Gly)
NM_001270974.2(HYDIN):c.2268C>A (p.Ile756=)
NM_001270974.2(HYDIN):c.2281A>T (p.Thr761Ser)
NM_001270974.2(HYDIN):c.2317A>T (p.Thr773Ser)
NM_001270974.2(HYDIN):c.2329A>G (p.Arg777Gly)
NM_001270974.2(HYDIN):c.2387T>G (p.Leu796Ter) rs2082047976
NM_001270974.2(HYDIN):c.2395G>A (p.Ala799Thr)
NM_001270974.2(HYDIN):c.2455G>A (p.Val819Ile)
NM_001270974.2(HYDIN):c.2472C>G (p.Ser824=)
NM_001270974.2(HYDIN):c.2859G>A (p.Gln953=)
NM_001270974.2(HYDIN):c.2873A>G (p.Lys958Arg)
NM_001270974.2(HYDIN):c.2907C>T (p.Val969=)
NM_001270974.2(HYDIN):c.2943T>C (p.Asp981=)
NM_001270974.2(HYDIN):c.2981T>A (p.Met994Lys)
NM_001270974.2(HYDIN):c.3018C>T (p.Leu1006=)
NM_001270974.2(HYDIN):c.3019G>C (p.Glu1007Gln)
NM_001270974.2(HYDIN):c.3053A>C (p.Glu1018Ala)
NM_001270974.2(HYDIN):c.3093G>A (p.Gly1031=)
NM_001270974.2(HYDIN):c.3135C>T (p.Val1045=)
NM_001270974.2(HYDIN):c.3291A>G (p.Ile1097Met)
NM_001270974.2(HYDIN):c.3365T>C (p.Leu1122Pro)
NM_001270974.2(HYDIN):c.3374A>T (p.Lys1125Met)
NM_001270974.2(HYDIN):c.3397G>T (p.Asp1133Tyr)
NM_001270974.2(HYDIN):c.3475C>T (p.Arg1159Cys)
NM_001270974.2(HYDIN):c.3543C>T (p.Asn1181=)
NM_001270974.2(HYDIN):c.3683T>G (p.Val1228Gly)
NM_001270974.2(HYDIN):c.3954G>A (p.Gln1318=)
NM_001270974.2(HYDIN):c.417G>A (p.Ser139=)
NM_001270974.2(HYDIN):c.4195C>T (p.Leu1399=)
NM_001270974.2(HYDIN):c.4333-4G>A
NM_001270974.2(HYDIN):c.4399T>G (p.Phe1467Val)
NM_001270974.2(HYDIN):c.441C>T (p.Pro147=)
NM_001270974.2(HYDIN):c.4431C>T (p.His1477=)
NM_001270974.2(HYDIN):c.4444A>G (p.Asn1482Asp)
NM_001270974.2(HYDIN):c.4458C>T (p.Ser1486=)
NM_001270974.2(HYDIN):c.4627G>A (p.Glu1543Lys)
NM_001270974.2(HYDIN):c.4706A>T (p.Lys1569Ile)
NM_001270974.2(HYDIN):c.4757G>A (p.Arg1586His)
NM_001270974.2(HYDIN):c.4760G>A (p.Arg1587His)
NM_001270974.2(HYDIN):c.4830A>G (p.Arg1610=)
NM_001270974.2(HYDIN):c.4866T>C (p.Phe1622=)
NM_001270974.2(HYDIN):c.4875A>G (p.Ser1625=)
NM_001270974.2(HYDIN):c.4931G>A (p.Arg1644His)
NM_001270974.2(HYDIN):c.4990G>T (p.Gly1664Trp)
NM_001270974.2(HYDIN):c.5082G>C (p.Val1694=)
NM_001270974.2(HYDIN):c.5143C>A (p.Gln1715Lys)
NM_001270974.2(HYDIN):c.5272G>A (p.Ala1758Thr)
NM_001270974.2(HYDIN):c.5536G>A (p.Glu1846Lys)
NM_001270974.2(HYDIN):c.5675G>A (p.Arg1892His)
NM_001270974.2(HYDIN):c.5807C>T (p.Ser1936Leu)
NM_001270974.2(HYDIN):c.5841G>A (p.Arg1947=)
NM_001270974.2(HYDIN):c.5846C>T (p.Ser1949Leu)
NM_001270974.2(HYDIN):c.5878C>T (p.Leu1960=)
NM_001270974.2(HYDIN):c.5904C>G (p.Val1968=)
NM_001270974.2(HYDIN):c.5910C>T (p.Ser1970=)
NM_001270974.2(HYDIN):c.5994C>T (p.Ser1998=)
NM_001270974.2(HYDIN):c.6037A>G (p.Ser2013Gly) rs2143946701
NM_001270974.2(HYDIN):c.6053G>A (p.Arg2018His) rs200979879
NM_001270974.2(HYDIN):c.6107G>C (p.Gly2036Ala)
NM_001270974.2(HYDIN):c.6177C>T (p.Tyr2059=)
NM_001270974.2(HYDIN):c.6188C>T (p.Ala2063Val)
NM_001270974.2(HYDIN):c.6289C>T (p.Gln2097Ter) rs774501536
NM_001270974.2(HYDIN):c.6317-7C>T
NM_001270974.2(HYDIN):c.6324G>C (p.Glu2108Asp)
NM_001270974.2(HYDIN):c.6326C>T (p.Ala2109Val)
NM_001270974.2(HYDIN):c.6398T>C (p.Met2133Thr)
NM_001270974.2(HYDIN):c.6430A>G (p.Lys2144Glu) rs199985487
NM_001270974.2(HYDIN):c.6449T>G (p.Val2150Gly) rs483352710
NM_001270974.2(HYDIN):c.6486C>T (p.Ser2162=)
NM_001270974.2(HYDIN):c.6487G>A (p.Gly2163Arg)
NM_001270974.2(HYDIN):c.6513C>T (p.His2171=)
NM_001270974.2(HYDIN):c.6549C>G (p.Leu2183=)
NM_001270974.2(HYDIN):c.6551C>T (p.Pro2184Leu)
NM_001270974.2(HYDIN):c.6561C>T (p.Pro2187=)
NM_001270974.2(HYDIN):c.6578G>C (p.Ser2193Thr)
NM_001270974.2(HYDIN):c.6631G>A (p.Asp2211Asn) rs748644598
NM_001270974.2(HYDIN):c.6730G>T (p.Ala2244Ser)
NM_001270974.2(HYDIN):c.6741C>T (p.Ala2247=)
NM_001270974.2(HYDIN):c.6831G>A (p.Glu2277=)
NM_001270974.2(HYDIN):c.6885G>C (p.Glu2295Asp)
NM_001270974.2(HYDIN):c.6945A>G (p.Lys2315=)
NM_001270974.2(HYDIN):c.6954C>T (p.Phe2318=)
NM_001270974.2(HYDIN):c.6958C>T (p.Arg2320Trp) rs138000790
NM_001270974.2(HYDIN):c.7112T>A (p.Ile2371Asn)
NM_001270974.2(HYDIN):c.7200C>T (p.Ile2400=)
NM_001270974.2(HYDIN):c.7323T>G (p.Ser2441Arg)
NM_001270974.2(HYDIN):c.7381G>A (p.Glu2461Lys) rs2143815130
NM_001270974.2(HYDIN):c.7446G>T (p.Leu2482=)
NM_001270974.2(HYDIN):c.7470G>A (p.Ala2490=)
NM_001270974.2(HYDIN):c.7560C>T (p.Arg2520=)
NM_001270974.2(HYDIN):c.7592C>T (p.Ala2531Val)
NM_001270974.2(HYDIN):c.7689C>T (p.Asp2563=)
NM_001270974.2(HYDIN):c.7815C>T (p.Ser2605=)
NM_001270974.2(HYDIN):c.7837G>A (p.Ala2613Thr)
NM_001270974.2(HYDIN):c.7852G>A (p.Val2618Ile)
NM_001270974.2(HYDIN):c.7885A>G (p.Met2629Val)
NM_001270974.2(HYDIN):c.8143A>G (p.Thr2715Ala)
NM_001270974.2(HYDIN):c.8172G>A (p.Leu2724=)
NM_001270974.2(HYDIN):c.8356C>T (p.Arg2786Ter)
NM_001270974.2(HYDIN):c.8382T>C (p.Ile2794=)
NM_001270974.2(HYDIN):c.8400G>T (p.Val2800=)
NM_001270974.2(HYDIN):c.8414G>A (p.Arg2805Gln)
NM_001270974.2(HYDIN):c.8493A>G (p.Leu2831=)
NM_001270974.2(HYDIN):c.8516+4A>C
NM_001270974.2(HYDIN):c.8645A>G (p.Asn2882Ser)
NM_001270974.2(HYDIN):c.8707G>C (p.Val2903Leu)
NM_001270974.2(HYDIN):c.8744A>G (p.Asn2915Ser)
NM_001270974.2(HYDIN):c.8787G>T (p.Gly2929=)
NM_001270974.2(HYDIN):c.8791C>T (p.Arg2931Cys)
NM_001270974.2(HYDIN):c.8802A>G (p.Leu2934=)
NM_001270974.2(HYDIN):c.8849+5G>C
NM_001270974.2(HYDIN):c.8862G>A (p.Arg2954=)
NM_001270974.2(HYDIN):c.9042G>A (p.Arg3014=)
NM_001270974.2(HYDIN):c.9084G>C (p.Gln3028His)
NM_001270974.2(HYDIN):c.9243G>A (p.Ala3081=)
NM_001270974.2(HYDIN):c.9249-13T>A rs1798454
NM_001270974.2(HYDIN):c.9482C>T (p.Ala3161Val)
NM_001270974.2(HYDIN):c.9483G>A (p.Ala3161=)
NM_001270974.2(HYDIN):c.950G>A (p.Arg317Gln)
NM_001270974.2(HYDIN):c.9548G>A (p.Cys3183Tyr)
NM_001270974.2(HYDIN):c.97A>G (p.Ser33Gly)
NM_001270974.2(HYDIN):c.980T>C (p.Ile327Thr)
NM_001270974.2(HYDIN):c.9871G>A (p.Ala3291Thr)
NM_001270974.2(HYDIN):c.9912C>T (p.Ser3304=)
NM_001270974.2(HYDIN):c.9960A>T (p.Leu3320=)

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