ClinVar Miner

List of variants in gene HLCS studied for not provided

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 125
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HGVS dbSNP gnomAD frequency
NM_001352514.2(HLCS):c.331-6927G>A rs2845822 0.86978
NM_000411.8(HLCS):c.-393+9107C>T rs8130102 0.83233
NM_001352514.2(HLCS):c.1437+197G>A rs2835539 0.59935
NM_001352514.2(HLCS):c.1893-46G>T rs2073421 0.59296
NM_001352514.2(HLCS):c.195+79G>C rs1055700 0.59285
NM_001352514.2(HLCS):c.195+93G>A rs1055699 0.59269
NM_001352514.2(HLCS):c.2237-66T>G rs2845804 0.55285
NM_001352514.2(HLCS):c.1438-150C>T rs2282501 0.55245
NM_001352514.2(HLCS):c.1438-36G>A rs2073425 0.55169
NM_001352514.2(HLCS):c.331-8712G>C rs13047776 0.48187
NM_001352514.2(HLCS):c.331-8713A>C rs13048613 0.48187
NM_001352514.2(HLCS):c.2236+159C>T rs2073419 0.43086
NM_001352514.2(HLCS):c.2122-30G>A rs2073420 0.40931
NM_000411.8(HLCS):c.-393+9186_-393+9189dup rs71328533 0.37503
NM_001352514.2(HLCS):c.1892+301C>T rs1009778 0.35369
NM_001352514.2(HLCS):c.2450+287C>T rs9636905 0.30271
NM_001352514.2(HLCS):c.1961-124G>A rs2835454 0.12854
NM_001352514.2(HLCS):c.1275C>T (p.Ser425=) rs1065758 0.11920
NM_001352514.2(HLCS):c.*259T>C rs73398122 0.06633
NM_001352514.2(HLCS):c.2450+287_2450+288del rs58695786 0.06420
NM_001352514.2(HLCS):c.2236+180A>G rs2073418 0.06199
NM_001352514.2(HLCS):c.2450+275G>A rs186604557 0.05641
NM_001352514.2(HLCS):c.2450+271G>A rs371198062 0.05130
NM_001352514.2(HLCS):c.494-241A>G rs117383985 0.04290
NM_001352514.2(HLCS):c.727G>A (p.Val243Ile) rs61732502 0.04059
NM_001352514.2(HLCS):c.1620+90G>C rs73905407 0.03998
NM_001352514.2(HLCS):c.2450+113G>A rs58201045 0.03988
NM_001352514.2(HLCS):c.494-80A>G rs73904770 0.03960
NM_001352514.2(HLCS):c.567G>T (p.Glu189Asp) rs61732504 0.03941
NM_001352514.2(HLCS):c.1893-243C>T rs73210783 0.03676
NM_001352514.2(HLCS):c.331-9266G>A rs149650105 0.02721
NM_001352514.2(HLCS):c.*40A>G rs77014096 0.02028
NM_001352514.2(HLCS):c.2122-107C>T rs74993434 0.01462
NM_001352514.2(HLCS):c.493+170G>C rs111843214 0.01432
NM_001352514.2(HLCS):c.2122-330A>G rs114539568 0.01357
NM_001352514.2(HLCS):c.330+88A>G rs7281145 0.01292
NM_001352514.2(HLCS):c.2450+267_2450+268insTA rs373220213 0.01211
NM_001352514.2(HLCS):c.331-7111G>A rs77067023 0.01191
NM_001352514.2(HLCS):c.1438-271T>C rs115523996 0.01068
NM_001352514.2(HLCS):c.2236+303G>A rs116222192 0.01023
NM_001352514.2(HLCS):c.196-149G>A rs76330918 0.01003
NM_001352514.2(HLCS):c.1893-279A>C rs113804566 0.00992
NM_001352514.2(HLCS):c.2122-35G>A rs148845011 0.00916
NM_001352514.2(HLCS):c.1960+200C>T rs146004582 0.00912
NM_001352514.2(HLCS):c.1438-149G>A rs7283538 0.00723
NM_001352514.2(HLCS):c.1969G>A (p.Gly657Arg) rs75867009 0.00642
NM_001352514.2(HLCS):c.2451-46G>A rs8133818 0.00626
NM_001352514.2(HLCS):c.1438-89T>A rs561053531 0.00549
NM_001352514.2(HLCS):c.1437+331T>G rs185741425 0.00536
NM_001352514.2(HLCS):c.2450+97G>A rs565221424 0.00480
NM_001352514.2(HLCS):c.330+317G>A rs188634060 0.00463
NM_001352514.2(HLCS):c.2450+277G>A rs549306707 0.00454
NM_001352514.2(HLCS):c.330+44C>G rs185222469 0.00454
NM_000411.8(HLCS):c.-393+9462C>T rs529768803 0.00414
NM_001352514.2(HLCS):c.2362G>A (p.Val788Met) rs150665851 0.00392
NM_001352514.2(HLCS):c.1620+53A>G rs115593113 0.00368
NM_001352514.2(HLCS):c.1002C>T (p.Ala334=) rs116114362 0.00352
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys) rs149736764 0.00315
NM_001352514.2(HLCS):c.1893-6C>T rs139904712 0.00313
NM_001352514.2(HLCS):c.1074G>A (p.Thr358=) rs116985497 0.00235
NM_001352514.2(HLCS):c.900G>A (p.Arg300=) rs146019354 0.00232
NM_001352514.2(HLCS):c.914C>T (p.Thr305Met) rs112176097 0.00191
NM_001352514.2(HLCS):c.1617G>A (p.Ala539=) rs111603166 0.00164
NM_001352514.2(HLCS):c.331-7170T>A rs181989786 0.00091
NM_001352514.2(HLCS):c.1695C>T (p.Leu565=) rs138209330 0.00087
NM_001352514.2(HLCS):c.865G>A (p.Val289Ile) rs149291867 0.00087
NM_001352514.2(HLCS):c.1331G>A (p.Arg444Gln) rs146030669 0.00074
NM_001352514.2(HLCS):c.1347G>C (p.Arg449Ser) rs142621386 0.00043
NM_001352514.2(HLCS):c.1390G>T (p.Val464Leu) rs144705277 0.00043
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln) rs147474255 0.00018
NM_001352514.2(HLCS):c.1330C>T (p.Arg444Trp) rs139902499 0.00013
NM_001352514.2(HLCS):c.2345A>G (p.Tyr782Cys) rs200453837 0.00012
NM_001352514.2(HLCS):c.1974dup (p.Val659fs) rs767533946 0.00009
NM_001352514.2(HLCS):c.2500G>A (p.Val834Ile) rs145648338 0.00007
NM_001352514.2(HLCS):c.1068G>A (p.Pro356=) rs73196003 0.00006
NM_001352514.2(HLCS):c.2341G>A (p.Asp781Asn) rs149399432 0.00004
NM_001352514.2(HLCS):c.2583C>T (p.Phe861=) rs532108774 0.00004
NM_001352514.2(HLCS):c.574C>G (p.Pro192Ala) rs200950813 0.00004
NM_001352514.2(HLCS):c.918A>G (p.Gly306=) rs767988985 0.00004
NM_001352514.2(HLCS):c.1960+5G>A rs753887925 0.00003
NM_001352514.2(HLCS):c.2332T>G (p.Leu778Val) rs199517800 0.00003
NM_001352514.2(HLCS):c.2036C>A (p.Ser679Tyr) rs777373322 0.00002
NM_001352514.2(HLCS):c.2134C>T (p.Arg712Ter) rs772791252 0.00002
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn) rs119103228 0.00002
NM_001352514.2(HLCS):c.445G>A (p.Glu149Lys) rs148981273 0.00001
NM_001352514.2(HLCS):c.529A>G (p.Lys177Glu) rs759396333 0.00001
NM_001352514.2(HLCS):c.570G>A (p.Pro190=) rs780666266 0.00001
NM_001352514.2(HLCS):c.840C>T (p.Tyr280=) rs779907293 0.00001
NM_001352514.2(HLCS):c.849C>G (p.Ser283Arg) rs750202558 0.00001
NM_001352514.2(HLCS):c.926C>T (p.Pro309Leu) rs771688112 0.00001
GRCh37/hg19 21q22.13(chr21:38216327-38311768)x1
NM_001352514.2(HLCS):c.*272C>T rs76983917
NM_001352514.2(HLCS):c.*7_*9del rs201681436
NM_001352514.2(HLCS):c.1093G>T (p.Val365Phe) rs1569216588
NM_001352514.2(HLCS):c.1158G>T (p.Gln386His)
NM_001352514.2(HLCS):c.1223del (p.Gly408fs) rs771944310
NM_001352514.2(HLCS):c.1233C>G (p.His411Gln) rs1601802008
NM_001352514.2(HLCS):c.130C>G (p.Gln44Glu)
NM_001352514.2(HLCS):c.1620+7del rs140568778
NM_001352514.2(HLCS):c.1621-13_1621-10del rs377641674
NM_001352514.2(HLCS):c.1621-149G>A rs143993094
NM_001352514.2(HLCS):c.165C>A (p.Gly55=)
NM_001352514.2(HLCS):c.1856C>G (p.Ala619Gly) rs767190021
NM_001352514.2(HLCS):c.1960+117A>T rs2835455
NM_001352514.2(HLCS):c.1961-179_1961-178del rs149558077
NM_001352514.2(HLCS):c.1970G>A (p.Gly657Glu) rs139216349
NM_001352514.2(HLCS):c.2065C>T (p.Gln689Ter) rs794727957
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met) rs119103231
NM_001352514.2(HLCS):c.2091G>A (p.Val697=) rs773627772
NM_001352514.2(HLCS):c.2121+59_2121+61del rs113222966
NM_001352514.2(HLCS):c.2333del (p.Pro777_Leu778insTer) rs796051978
NM_001352514.2(HLCS):c.2446C>T (p.His816Tyr) rs878852989
NM_001352514.2(HLCS):c.2450+136C>T rs9977769
NM_001352514.2(HLCS):c.2450+254dup rs35509622
NM_001352514.2(HLCS):c.2450+276T>C rs187818323
NM_001352514.2(HLCS):c.2494T>C (p.Ser832Pro) rs1568956511
NM_001352514.2(HLCS):c.330+65_330+71dup rs58618927
NM_001352514.2(HLCS):c.330+65dup rs58618927
NM_001352514.2(HLCS):c.331-8454C>T rs3827190
NM_001352514.2(HLCS):c.331-8750dup rs149344751
NM_001352514.2(HLCS):c.331-9297C>T rs981348627
NM_001352514.2(HLCS):c.331-9298del rs35458660
NM_001352514.2(HLCS):c.331-9299_331-9298del rs35458660
NM_001352514.2(HLCS):c.569_585delinsTTGCTTGAGATTAAGCCTGAGATTAAGG (p.Pro190_Ser195delinsLeuAlaTer) rs1064796014
NM_001352514.2(HLCS):c.95C>T (p.Ser32Leu) rs911599606

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