ClinVar Miner

List of variants in gene HR studied for not provided

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Gene type:
ClinVar version:
Total variants: 189
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HGVS dbSNP gnomAD frequency
NM_005144.5(HR):c.3213+96T>C rs4872300 0.99983
NM_005144.5(HR):c.2611-52T>C rs11135859 0.63600
NM_005144.5(HR):c.1305T>C (p.Phe435=) rs12675745 0.63572
NM_005144.5(HR):c.2978-76C>T rs12677278 0.52231
NM_005144.5(HR):c.1915+28C>G rs567969146 0.49756
NM_005144.5(HR):c.*240C>A rs6994872 0.37740
NM_005144.5(HR):c.3379-29G>T rs6557829 0.35485
NM_005144.5(HR):c.2611-68C>T rs11779694 0.34902
NM_005144.5(HR):c.612+305T>A rs6992008 0.28404
NM_005144.5(HR):c.1010G>A (p.Gly337Asp) rs12675375 0.28084
NM_005144.5(HR):c.1577T>C (p.Leu526Pro) rs56140348 0.19328
NM_005144.5(HR):c.1406-281C>T rs56143343 0.12109
NM_005144.5(HR):c.1750+108G>A rs55993577 0.12018
NM_005144.5(HR):c.2370T>C (p.Asp790=) rs57903149 0.11618
NM_005144.5(HR):c.2367T>C (p.Ser789=) rs58080661 0.11568
NM_005144.5(HR):c.3064A>G (p.Thr1022Ala) rs7014851 0.08773
NM_005144.5(HR):c.1583A>G (p.Gln528Arg) rs74596676 0.07210
NM_005144.5(HR):c.1190G>A (p.Cys397Tyr) rs73549523 0.06592
NM_005144.5(HR):c.612+208G>A rs57612456 0.06299
NM_005144.5(HR):c.2977+172G>A rs35143513 0.05584
NM_005144.5(HR):c.2733C>A (p.Ser911Arg) rs11990451 0.05556
NM_005144.5(HR):c.956C>T (p.Pro319Leu) rs77758962 0.05449
NM_005144.5(HR):c.188C>G (p.Pro63Arg) rs73549525 0.03073
NM_005144.5(HR):c.27G>A (p.Lys9=) rs77620102 0.03021
NM_005144.5(HR):c.1859G>A (p.Arg620Gln) rs117197822 0.02084
NM_005144.5(HR):c.*820G>C rs142767236 0.01950
NM_005144.5(HR):c.3507+83G>A rs116672856 0.01669
NM_005144.5(HR):c.2467G>A (p.Gly823Ser) rs76547188 0.01641
NM_005144.5(HR):c.1507G>A (p.Ala503Thr) rs115643651 0.01594
NM_005144.5(HR):c.2570G>A (p.Arg857His) rs114871775 0.01509
NM_005144.5(HR):c.1055C>T (p.Ala352Val) rs115396678 0.01418
NM_005144.5(HR):c.*81C>T rs114329519 0.01316
NM_005144.5(HR):c.2211C>T (p.Pro737=) rs77689228 0.01241
NM_005144.5(HR):c.*218T>C rs74869265 0.01220
NM_005144.5(HR):c.1907A>G (p.Glu636Gly) rs75362423 0.01168
NM_005144.5(HR):c.1461C>T (p.Cys487=) rs78703240 0.01153
NM_005144.5(HR):c.1359G>A (p.Ser453=) rs78489044 0.00909
NM_005144.5(HR):c.3216G>A (p.Val1072=) rs146855847 0.00634
NM_005144.5(HR):c.3253C>G (p.Pro1085Ala) rs143782421 0.00633
NM_005144.5(HR):c.2617T>C (p.Leu873=) rs116376389 0.00542
NM_005144.5(HR):c.3192C>T (p.Arg1064=) rs114507110 0.00527
NM_005144.5(HR):c.3213+10C>T rs116703265 0.00522
NM_005144.5(HR):c.1727C>T (p.Ala576Val) rs76294724 0.00512
NM_005144.5(HR):c.205C>T (p.Pro69Ser) rs78621054 0.00328
NM_005144.5(HR):c.*931T>C rs76436208 0.00289
NM_005144.5(HR):c.1956C>T (p.Ala652=) rs78939934 0.00264
NM_005144.5(HR):c.970C>T (p.Arg324Trp) rs143170974 0.00233
NM_005144.5(HR):c.2862T>A (p.Ala954=) rs148407688 0.00225
NM_005144.5(HR):c.1557-13G>A rs113141789 0.00205
NM_005144.5(HR):c.1517A>G (p.Glu506Gly) rs112016555 0.00203
NM_005144.5(HR):c.2526A>C (p.Pro842=) rs371431900 0.00199
NM_005144.5(HR):c.1380C>T (p.Asp460=) rs147308644 0.00196
NM_005144.5(HR):c.3250G>A (p.Ala1084Thr) rs201956860 0.00177
NM_005144.5(HR):c.3507+12G>A rs79262499 0.00140
NM_005144.5(HR):c.2104G>T (p.Gly702Trp) rs138941448 0.00134
NM_005144.5(HR):c.2354C>T (p.Pro785Leu) rs140534514 0.00100
NM_005144.5(HR):c.*180G>A rs564901808 0.00066
NM_005144.5(HR):c.2249G>A (p.Arg750Gln) rs200306863 0.00063
NM_005144.5(HR):c.1527G>A (p.Gly509=) rs73549518 0.00055
NM_005144.5(HR):c.184C>A (p.Pro62Thr) rs137929972 0.00053
NM_005144.5(HR):c.1572G>A (p.Gly524=) rs149811800 0.00050
NM_005144.5(HR):c.3309C>T (p.Gly1103=) rs558767137 0.00046
NM_005144.5(HR):c.1346T>G (p.Val449Gly) rs144744042 0.00042
NM_005144.5(HR):c.1772A>G (p.Glu591Gly) rs137912857 0.00041
NM_005144.5(HR):c.333C>T (p.Cys111=) rs143223831 0.00034
NM_005144.5(HR):c.1458A>G (p.Pro486=) rs144643140 0.00029
NM_005144.5(HR):c.1552C>T (p.Arg518Trp) rs138624433 0.00028
NM_005144.5(HR):c.974G>A (p.Gly325Asp) rs200125747 0.00020
NM_005144.5(HR):c.1469T>G (p.Leu490Arg) rs138006057 0.00019
NM_005144.5(HR):c.2298G>A (p.Ala766=) rs145225497 0.00017
NM_005144.5(HR):c.1276C>T (p.Pro426Ser) rs151036296 0.00016
NM_005144.5(HR):c.1575G>A (p.Glu525=) rs557921105 0.00014
NM_005144.5(HR):c.2993G>A (p.Arg998Gln) rs138875411 0.00014
NM_005144.5(HR):c.3470C>G (p.Pro1157Arg) rs201030061 0.00014
NM_005144.5(HR):c.1632C>T (p.Ser544=) rs148562279 0.00013
NM_005144.5(HR):c.1662C>T (p.Leu554=) rs369191252 0.00006
NM_005144.5(HR):c.2367+14C>T rs112532092 0.00006
NM_005144.5(HR):c.2217C>T (p.Ser739=) rs574361484 0.00005
NM_005144.5(HR):c.*295G>A rs1044334227 0.00004
NM_005144.5(HR):c.1618G>A (p.Glu540Lys) rs772984704 0.00004
NM_005144.5(HR):c.85G>A (p.Gly29Ser) rs774239265 0.00004
NM_005144.5(HR):c.2636G>A (p.Arg879Lys) rs771886990 0.00003
NM_005144.5(HR):c.2698G>A (p.Ala900Thr) rs367558699 0.00002
NM_005144.5(HR):c.2422A>G (p.Lys808Glu) rs915848259 0.00001
NM_005144.5(HR):c.3407T>C (p.Val1136Ala) rs121434448 0.00001
NM_005144.5(HR):c.1015G>T (p.Gly339Cys)
NM_005144.5(HR):c.1146_1161dup (p.Ser388fs)
NM_005144.5(HR):c.1161C>T (p.His387=)
NM_005144.5(HR):c.1168C>G (p.Gln390Glu)
NM_005144.5(HR):c.1177T>G (p.Cys393Gly)
NM_005144.5(HR):c.119C>A (p.Pro40Gln)
NM_005144.5(HR):c.1254G>A (p.Glu418=)
NM_005144.5(HR):c.1295C>T (p.Pro432Leu)
NM_005144.5(HR):c.1296G>A (p.Pro432=)
NM_005144.5(HR):c.1369A>G (p.Lys457Glu)
NM_005144.5(HR):c.1405+62C>T rs12681529
NM_005144.5(HR):c.1406-20C>T
NM_005144.5(HR):c.1531G>A (p.Ala511Thr)
NM_005144.5(HR):c.1553G>A (p.Arg518Gln)
NM_005144.5(HR):c.1566G>T (p.Leu522=)
NM_005144.5(HR):c.1588G>A (p.Glu530Lys)
NM_005144.5(HR):c.162G>A (p.Leu54=)
NM_005144.5(HR):c.1663G>A (p.Ala555Thr)
NM_005144.5(HR):c.1694G>A (p.Arg565Gln)
NM_005144.5(HR):c.173A>T (p.Asp58Val)
NM_005144.5(HR):c.1747G>A (p.Glu583Lys)
NM_005144.5(HR):c.174C>T (p.Asp58=)
NM_005144.5(HR):c.1751-11G>A
NM_005144.5(HR):c.1792C>T (p.Arg598Cys)
NM_005144.5(HR):c.1807T>A (p.Cys603Ser) rs1554469549
NM_005144.5(HR):c.1864T>G (p.Cys622Gly)
NM_005144.5(HR):c.1915+8A>G rs1406164122
NM_005144.5(HR):c.1916-180T>G rs73549513
NM_005144.5(HR):c.1916-7C>G
NM_005144.5(HR):c.1932C>T (p.Ser644=)
NM_005144.5(HR):c.1935G>A (p.Ala645=)
NM_005144.5(HR):c.193T>C (p.Phe65Leu)
NM_005144.5(HR):c.1946C>T (p.Thr649Met)
NM_005144.5(HR):c.1947G>A (p.Thr649=)
NM_005144.5(HR):c.2006-16C>T
NM_005144.5(HR):c.2006-6C>T
NM_005144.5(HR):c.2059C>T (p.Arg687Trp)
NM_005144.5(HR):c.2060G>A (p.Arg687Gln)
NM_005144.5(HR):c.2090G>A (p.Arg697Gln)
NM_005144.5(HR):c.2104G>A (p.Gly702Arg) rs138941448
NM_005144.5(HR):c.2122-20dup
NM_005144.5(HR):c.2141C>T (p.Thr714Met)
NM_005144.5(HR):c.2147del (p.Pro716fs) rs2131756993
NM_005144.5(HR):c.2218G>A (p.Ala740Thr)
NM_005144.5(HR):c.2240G>A (p.Arg747His)
NM_005144.5(HR):c.2278G>A (p.Glu760Lys)
NM_005144.5(HR):c.2315G>A (p.Gly772Asp)
NM_005144.5(HR):c.2389C>T (p.Leu797=)
NM_005144.5(HR):c.2415G>A (p.Val805=)
NM_005144.5(HR):c.2455C>T (p.Arg819Ter)
NM_005144.5(HR):c.2504T>C (p.Val835Ala)
NM_005144.5(HR):c.2507G>T (p.Arg836Leu) rs201739936
NM_005144.5(HR):c.2508G>T (p.Arg836=)
NM_005144.5(HR):c.2512C>T (p.Arg838Trp)
NM_005144.5(HR):c.2532T>C (p.Ala844=)
NM_005144.5(HR):c.2545C>T (p.Gln849Ter)
NM_005144.5(HR):c.2566C>G (p.Arg856Gly) rs377059643
NM_005144.5(HR):c.2566C>T (p.Arg856Trp) rs377059643
NM_005144.5(HR):c.2663C>G (p.Thr888Arg)
NM_005144.5(HR):c.2777-19G>A
NM_005144.5(HR):c.2779C>T (p.Arg927Cys)
NM_005144.5(HR):c.2790A>G (p.Ser930=)
NM_005144.5(HR):c.2846+8T>C
NM_005144.5(HR):c.2886C>G (p.Tyr962Ter) rs1554580532
NM_005144.5(HR):c.2889C>T (p.Cys963=)
NM_005144.5(HR):c.2891C>T (p.Ala964Val)
NM_005144.5(HR):c.2900G>C (p.Gly967Ala)
NM_005144.5(HR):c.3061G>A (p.Asp1021Asn)
NM_005144.5(HR):c.3074C>G (p.Pro1025Arg)
NM_005144.5(HR):c.3097+10C>A
NM_005144.5(HR):c.3098-13C>A
NM_005144.5(HR):c.3137C>T (p.Pro1046Leu)
NM_005144.5(HR):c.3165C>T (p.His1055=)
NM_005144.5(HR):c.3183C>T (p.Asp1061=)
NM_005144.5(HR):c.3191G>A (p.Arg1064His)
NM_005144.5(HR):c.3213+14C>T
NM_005144.5(HR):c.3213+15G>C
NM_005144.5(HR):c.3249C>A (p.Gly1083=) rs552153164
NM_005144.5(HR):c.3283C>T (p.Arg1095Trp)
NM_005144.5(HR):c.3287G>A (p.Arg1096Gln)
NM_005144.5(HR):c.3287_3291dup (p.Leu1098fs)
NM_005144.5(HR):c.3296G>A (p.Arg1099Gln)
NM_005144.5(HR):c.3303G>A (p.Glu1101=)
NM_005144.5(HR):c.3338C>A (p.Pro1113His)
NM_005144.5(HR):c.3339C>A (p.Pro1113=) rs112173147
NM_005144.5(HR):c.3352C>T (p.Leu1118=)
NM_005144.5(HR):c.3378+12C>A
NM_005144.5(HR):c.3378+18G>A
NM_005144.5(HR):c.3379-6A>G
NM_005144.5(HR):c.3379-91T>G rs6557830
NM_005144.5(HR):c.3432G>C (p.Glu1144Asp)
NM_005144.5(HR):c.3435C>T (p.Thr1145=)
NM_005144.5(HR):c.3462C>T (p.His1154=)
NM_005144.5(HR):c.352C>T (p.Arg118Cys)
NM_005144.5(HR):c.37A>G (p.Thr13Ala) rs143316642
NM_005144.5(HR):c.419C>T (p.Pro140Leu)
NM_005144.5(HR):c.435C>A (p.Phe145Leu)
NM_005144.5(HR):c.471C>T (p.Phe157=)
NM_005144.5(HR):c.558G>C (p.Trp186Cys)
NM_005144.5(HR):c.597C>T (p.Phe199=)
NM_005144.5(HR):c.729C>T (p.Ala243=)
NM_005144.5(HR):c.833C>T (p.Ser278Phe)
NM_005144.5(HR):c.926C>A (p.Pro309Gln)
NM_005144.5(HR):c.943C>T (p.Pro315Ser)

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