ClinVar Miner

List of variants studied for branchiootorenal syndrome 2

Included ClinVar conditions (1):
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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_175875.5(SIX5):c.1903C>T (p.Pro635Ser) rs2014576 0.43324
NM_175875.5(SIX5):c.2077G>A (p.Val693Met) rs2341097 0.33126
NM_175875.5(SIX5):c.375G>C (p.Pro125=) rs147268086 0.00636
NM_175875.5(SIX5):c.1963C>T (p.Leu655=) rs151072042 0.00312
NM_175875.5(SIX5):c.2173C>T (p.Leu725=) rs112320524 0.00178
NM_175875.5(SIX5):c.1609+14C>T rs200640688 0.00124
NM_175875.5(SIX5):c.549G>A (p.Val183=) rs143904307 0.00083
NM_175875.5(SIX5):c.1264C>T (p.Leu422=) rs193244455 0.00052
NM_175875.5(SIX5):c.1655C>T (p.Thr552Met) rs80356464 0.00023
NM_175875.5(SIX5):c.472G>A (p.Ala158Thr) rs80356461 0.00020
NM_175875.5(SIX5):c.543C>A (p.Gly181=) rs372584912 0.00019
NM_175875.5(SIX5):c.1462C>T (p.Pro488Ser) rs200487992 0.00017
NM_175875.5(SIX5):c.1042C>T (p.Leu348=) rs779368770 0.00014
NM_175875.5(SIX5):c.492C>T (p.Tyr164=) rs372293937 0.00014
NM_175875.5(SIX5):c.1390A>T (p.Thr464Ser) rs550402717 0.00012
NM_175875.5(SIX5):c.886G>A (p.Ala296Thr) rs80356462 0.00009
NM_175875.5(SIX5):c.603C>T (p.Gly201=) rs202164217 0.00007
NM_175875.5(SIX5):c.1687C>T (p.Leu563Phe) rs781343581 0.00006
NM_175875.5(SIX5):c.15T>G (p.Pro5=) rs1366167968 0.00004
NM_175875.5(SIX5):c.1802C>T (p.Pro601Leu) rs768981892 0.00004
NM_175875.5(SIX5):c.936C>T (p.Pro312=) rs374751577 0.00003
NM_175875.5(SIX5):c.108G>A (p.Leu36=) rs532927547 0.00002
NM_175875.5(SIX5):c.1368C>T (p.Leu456=) rs982154839 0.00002
NM_175875.5(SIX5):c.1876G>A (p.Ala626Thr) rs751513858 0.00002
NM_175875.5(SIX5):c.915C>T (p.Phe305=) rs370303254 0.00002
NM_175875.5(SIX5):c.1093G>A (p.Gly365Arg) rs80356463 0.00001
NM_175875.5(SIX5):c.1261G>A (p.Val421Ile) rs1057519372 0.00001
NM_175875.5(SIX5):c.1629C>T (p.Asn543=) rs768534722 0.00001
NM_175875.5(SIX5):c.258C>G (p.Phe86Leu) rs950267055 0.00001
NM_175875.5(SIX5):c.945C>G (p.Cys315Trp) rs1444936221 0.00001
NM_175875.5(SIX5):c.1023C>T (p.Gly341=) rs780345670
NM_175875.5(SIX5):c.1069G>A (p.Gly357Ser)
NM_175875.5(SIX5):c.1665C>T (p.Ala555=)
NM_175875.5(SIX5):c.1666C>G (p.Leu556Val) rs2014377
NM_175875.5(SIX5):c.1773G>T (p.Thr591=) rs138916954
NM_175875.5(SIX5):c.1852T>C (p.Ser618Pro) rs1600396951
NM_175875.5(SIX5):c.503G>A (p.Arg168His)
NM_175875.5(SIX5):c.931C>T (p.Pro311Ser)

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