ClinVar Miner

List of variants studied for Situs inversus

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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_145054.5(CFAP52):c.1006G>A (p.Glu336Lys) rs6503235 0.64676
NM_145054.5(CFAP52):c.1065T>C (p.Asp355=) rs57960962 0.01891
NM_145054.5(CFAP52):c.1392G>T (p.Val464=) rs73975761 0.01599
NM_145054.5(CFAP52):c.1692A>C (p.Gly564=) rs36018005 0.01129
NM_145054.5(CFAP52):c.1026-3C>T rs75671790 0.00541
NM_145054.5(CFAP52):c.1185C>T (p.Asp395=) rs149428354 0.00454
NM_145054.5(CFAP52):c.458C>T (p.Ala153Val) rs77839011 0.00442
NM_145054.5(CFAP52):c.537-18T>G rs200087214 0.00342
NM_145054.5(CFAP52):c.1320+18T>C rs73975757 0.00310
NM_145054.5(CFAP52):c.804T>C (p.Ser268=) rs137995073 0.00251
NM_145054.5(CFAP52):c.1369C>T (p.Leu457=) rs140517505 0.00244
NM_145054.5(CFAP52):c.1772C>T (p.Thr591Ile) rs112783393 0.00242
NM_145054.5(CFAP52):c.788G>A (p.Gly263Asp) rs139646620 0.00225
NM_145054.5(CFAP52):c.1155C>T (p.Asp385=) rs145951373 0.00188
NM_145054.5(CFAP52):c.213C>T (p.Ala71=) rs143579503 0.00173
NM_145054.5(CFAP52):c.214A>G (p.Ile72Val) rs112544398 0.00129
NM_145054.5(CFAP52):c.1613G>C (p.Arg538Thr) rs140641061 0.00099
NM_145054.5(CFAP52):c.1106G>A (p.Arg369Gln) rs141646758 0.00082
NM_145054.5(CFAP52):c.936G>A (p.Ser312=) rs146057434 0.00061
NM_001369.3(DNAH5):c.11476C>T (p.Leu3826Phe) rs146750552 0.00039
NM_145054.5(CFAP52):c.244G>A (p.Gly82Arg) rs150136894 0.00036
NM_145054.5(CFAP52):c.810C>T (p.Ala270=) rs146548028 0.00025
NM_145054.5(CFAP52):c.734C>T (p.Ala245Val) rs146845939 0.00022
NM_145054.5(CFAP52):c.1592T>C (p.Val531Ala) rs529314545 0.00013
NM_145054.5(CFAP52):c.1641G>A (p.Ser547=) rs143049274 0.00013
NM_145054.5(CFAP52):c.1701T>C (p.His567=) rs776124001 0.00013
NM_145054.5(CFAP52):c.243C>T (p.Ser81=) rs373499244 0.00011
NM_145054.5(CFAP52):c.439G>A (p.Ala147Thr) rs748587285 0.00009
NM_145054.5(CFAP52):c.138A>G (p.Thr46=) rs376343886 0.00008
NM_145054.5(CFAP52):c.1601G>C (p.Gly534Ala) rs182215122 0.00007
NM_145054.5(CFAP52):c.199G>A (p.Val67Ile) rs201479202 0.00006
NM_145054.5(CFAP52):c.1780C>T (p.Arg594Cys) rs200319536 0.00005
NM_145054.5(CFAP52):c.509G>A (p.Arg170Gln) rs34653219 0.00004
NM_145054.5(CFAP52):c.531T>A (p.Ala177=) rs771541433 0.00003
NM_145054.5(CFAP52):c.536+1G>T rs746987839 0.00003
NM_145054.5(CFAP52):c.873C>T (p.Gly291=) rs762482958 0.00003
NM_145054.5(CFAP52):c.1027G>A (p.Gly343Ser) rs920396220 0.00002
NM_145054.5(CFAP52):c.121T>C (p.Tyr41His) rs371902741 0.00002
NM_145054.5(CFAP52):c.1257C>T (p.Gly419=) rs768830852 0.00002
NM_145054.5(CFAP52):c.1652T>C (p.Met551Thr) rs745330016 0.00002
NM_145054.5(CFAP52):c.751T>C (p.Leu251=) rs371814923 0.00002
NM_138295.5(PKD1L1):c.5072G>C (p.Cys1691Ser) rs886037834 0.00001
NM_138295.5(PKD1L1):c.7825C>T (p.Gln2609Ter) rs1368668141 0.00001
NM_145054.5(CFAP52):c.1419C>T (p.Asn473=) rs746643469 0.00001
NM_145054.5(CFAP52):c.1430T>C (p.Val477Ala) rs77840450 0.00001
NM_145054.5(CFAP52):c.1492A>G (p.Met498Val) rs765338836 0.00001
NM_145054.5(CFAP52):c.969A>T (p.Lys323Asn) rs767468275 0.00001
NM_001369.3(DNAH5):c.5880C>T (p.Asp1960=) rs1764848840
NM_018055.5(NODAL):c.188C>A (p.Ala63Glu) rs1414914299
NM_018365.4(MNS1):c.407_410del (p.Glu136fs) rs1596264554
NM_138295.5(PKD1L1):c.6473+2_6473+3del rs528302390
NM_145054.5(CFAP52):c.1025+19C>A rs2508363859
NM_145054.5(CFAP52):c.1404G>T (p.Arg468Ser) rs775063335
NM_145054.5(CFAP52):c.1442C>G (p.Thr481Ser) rs142289033
NM_145054.5(CFAP52):c.1625G>A (p.Gly542Asp) rs552119987
NM_145054.5(CFAP52):c.1752G>A (p.Val584=) rs1555545305
NM_145054.5(CFAP52):c.189delinsAGCA (p.His63delinsGlnAla) rs1597763121
NM_145054.5(CFAP52):c.482C>A (p.Ala161Asp) rs147354190
NM_145054.5(CFAP52):c.537-7del rs57409272
NM_145054.5(CFAP52):c.537-7dup rs57409272
NM_145054.5(CFAP52):c.636+12_636+16del rs766609885
NM_145054.5(CFAP52):c.771G>T (p.Arg257Ser) rs1389914976
NM_145054.5(CFAP52):c.854+10G>T rs182160437

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