ClinVar Miner

List of variants studied for autosomal recessive disease by Athena Diagnostics Inc

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 98
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HGVS dbSNP gnomAD frequency
NM_000334.4(SCN4A):c.1570A>G (p.Ser524Gly) rs6504191 0.91477
NM_000091.5(COL4A3):c.1195C>T (p.Leu399=) rs10205042 0.72668
NM_024649.5(BBS1):c.*7A>G rs8432 0.66464
NM_000163.5(GHR):c.558A>G (p.Gly186=) rs6179 0.64137
NM_000334.4(SCN4A):c.4126A>G (p.Asn1376Asp) rs2058194 0.59717
NM_000083.3(CLCN1):c.1402-9C>T rs2272252 0.44267
NM_000334.4(SCN4A):c.4869A>G (p.Thr1623=) rs2070720 0.43390
NM_000163.5(GHR):c.1630A>C (p.Ile544Leu) rs6180 0.42616
NM_018972.4(GDAP1):c.507T>G (p.Ser169=) rs11554166 0.27295
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999 0.25357
NM_024649.5(BBS1):c.724-8G>C rs10896125 0.24158
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=) rs17718530 0.23571
NM_002180.3(IGHMBP2):c.2636C>A (p.Thr879Lys) rs17612126 0.22387
NM_024649.5(BBS1):c.378G>A (p.Leu126=) rs2298806 0.21158
NM_002180.3(IGHMBP2):c.2080C>T (p.Arg694Trp) rs2236654 0.20662
NM_002180.3(IGHMBP2):c.1554C>T (p.Val518=) rs11228413 0.20651
NM_031885.5(BBS2):c.367A>G (p.Ile123Val) rs11373 0.20545
NM_002180.3(IGHMBP2):c.823A>G (p.Ile275Val) rs10896380 0.19067
NM_024649.5(BBS1):c.1413C>T (p.Leu471=) rs3816492 0.17957
NM_000334.4(SCN4A):c.4539C>A (p.Ile1513=) rs56342400 0.16783
NM_000334.4(SCN4A):c.5478T>G (p.Thr1826=) rs2227906 0.15916
NM_000091.5(COL4A3):c.976G>T (p.Asp326Tyr) rs55703767 0.15364
NM_001083961.2(WDR62):c.186C>T (p.Leu62=) rs11538454 0.14792
NM_001083961.2(WDR62):c.2271G>A (p.Leu757=) rs61494900 0.14221
NM_001083961.2(WDR62):c.3468C>T (p.Leu1156=) rs17851502 0.14024
NM_001083961.2(WDR62):c.1643-10C>T rs4806263 0.14010
NM_001083961.2(WDR62):c.1470C>T (p.Asp490=) rs45567532 0.13368
NM_000334.4(SCN4A):c.5403C>T (p.Ala1801=) rs2227907 0.12581
NM_001077365.2(POMT1):c.699+53= rs2296949 0.11752
NM_001077365.2(POMT1):c.1047= (p.Asp349=) rs3739494 0.11727
NM_001077365.2(POMT1):c.876= (p.Thr292=) rs10901065 0.11723
NM_000091.5(COL4A3):c.1452G>A (p.Gly484=) rs34019152 0.07474
NM_000091.5(COL4A3):c.1223G>A (p.Arg408His) rs34505188 0.06909
NM_024685.4(BBS10):c.1616C>T (p.Pro539Leu) rs35676114 0.05430
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys) rs3739922 0.04708
NM_000070.3(CAPN3):c.2380+12del rs28364538 0.04623
NM_000337.6(SGCD):c.290G>A (p.Arg97Gln) rs45559835 0.04292
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile) rs4740164 0.04243
NM_001083961.2(WDR62):c.180G>A (p.Val60=) rs61742664 0.04216
NM_000334.4(SCN4A):c.366C>T (p.Arg122=) rs41280108 0.04121
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu) rs11243406 0.04069
NM_000334.4(SCN4A):c.1167T>C (p.Tyr389=) rs16947296 0.03818
NM_001083961.2(WDR62):c.4123G>A (p.Gly1375Ser) rs17851503 0.03516
NM_001083961.2(WDR62):c.3401T>G (p.Met1134Arg) rs61741470 0.03313
NM_001083961.2(WDR62):c.3639C>T (p.Ser1213=) rs45470992 0.03038
NM_000091.5(COL4A3):c.805G>A (p.Glu269Lys) rs80109666 0.02845
NM_000092.5(COL4A4):c.948T>C (p.Tyr316=) rs34509421 0.02777
NM_000091.5(COL4A3):c.4041C>A (p.Asp1347Glu) rs73996414 0.02579
NM_000092.5(COL4A4):c.4041A>G (p.Leu1347=) rs16823077 0.02492
NM_000092.5(COL4A4):c.1781A>G (p.Glu594Gly) rs35998949 0.02275
NM_004004.6(GJB2):c.79G>A (p.Val27Ile) rs2274084 0.02218
NM_024649.5(BBS1):c.1349G>A (p.Arg450Gln) rs77298332 0.02147
NM_000091.5(COL4A3):c.399G>A (p.Gly133=) rs75683214 0.02133
NM_000334.4(SCN4A):c.2989+5G>A rs115695396 0.02066
NM_001077365.2(POMT1):c.1275A>G (p.Glu425=) rs62620174 0.02004
NM_000092.5(COL4A4):c.2899A>G (p.Ile967Val) rs80243096 0.01747
NM_024301.5(FKRP):c.192C>T (p.Pro64=) rs111754012 0.01474
NM_000334.4(SCN4A):c.2289C>T (p.Ile763=) rs76894284 0.01359
NM_015046.7(SETX):c.6507G>A (p.Gly2169=) rs34073320 0.01300
NM_000163.5(GHR):c.1735C>A (p.Pro579Thr) rs6184 0.01120
NM_024301.5(FKRP):c.585C>T (p.Asp195=) rs75079578 0.01080
NM_000334.4(SCN4A):c.1796A>G (p.His599Arg) rs187401185 0.00343
NM_000334.4(SCN4A):c.355G>A (p.Val119Ile) rs41280110 0.00232
NM_000334.4(SCN4A):c.1100+7G>A rs200770684 0.00212
NM_000334.4(SCN4A):c.2623C>T (p.Pro875Ser) rs201148948 0.00134
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe) rs150518260 0.00019
NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu) rs149095128 0.00018
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys) rs104894423 0.00016
NM_000070.3(CAPN3):c.499-1G>A rs863224964 0.00006
NM_213599.3(ANO5):c.41-1G>A rs398124625 0.00006
NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp) rs863224959 0.00004
NM_213599.3(ANO5):c.1210C>T (p.Arg404Ter) rs566415362 0.00004
NM_000070.3(CAPN3):c.1939G>T (p.Glu647Ter) rs863224960 0.00003
NM_213599.3(ANO5):c.762+1G>A rs372221490 0.00003
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys) rs758647756 0.00002
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290 0.00002
NM_000070.3(CAPN3):c.566T>C (p.Leu189Pro) rs758795961 0.00002
NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr) rs774048743 0.00001
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln) rs121434544 0.00001
NM_000070.3(CAPN3):c.1981del (p.Gln660_Ile661insTer) rs762471207 0.00001
NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter) rs746873768 0.00001
NM_001130987.2(DYSF):c.356del (p.Val119fs) rs398123782 0.00001
NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter) rs745663149 0.00001
NM_000070.3(CAPN3):c.146G>A (p.Arg49His) rs863224958
NM_000070.3(CAPN3):c.1992+1G>T rs863224961
NM_000070.3(CAPN3):c.2381-2A>G rs863224962
NM_000070.3(CAPN3):c.883_886delinsCTT (p.Asp295fs) rs863224966
NM_000091.5(COL4A3):c.127G>C (p.Gly43Arg) rs13424243
NM_001083961.2(WDR62):c.1641G>A (p.Thr547=) rs2301734
NM_001130987.2(DYSF):c.1263_1276+1dup rs863225019
NM_001130987.2(DYSF):c.1906G>C (p.Gly636Arg) rs201049092
NM_001130987.2(DYSF):c.3166C>T (p.Arg1056Ter) rs369607332
NM_001130987.2(DYSF):c.3570_3571del (p.Phe1190_Ser1191insTer) rs766341386
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys) rs786205084
NM_001130987.2(DYSF):c.5953_5956del (p.Gln1985fs) rs398123797
NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp) rs28937903
NM_024301.5(FKRP):c.941C>T (p.Thr314Met) rs398124395
NM_213599.3(ANO5):c.989dup (p.Leu330fs) rs398124626

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