ClinVar Miner

List of variants reported as likely benign for corneal dystrophy-perceptive deafness syndrome by Natera, Inc.

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_001174089.2(SLC4A11):c.991C>T (p.Arg331Trp) rs138137682 0.00140
NM_001174089.2(SLC4A11):c.1779C>T (p.Ser593=) rs62208067 0.00065
NM_001174089.2(SLC4A11):c.903G>A (p.Thr301=) rs193080010 0.00048
NM_001174089.2(SLC4A11):c.765G>A (p.Thr255=) rs78860240 0.00039
NM_001174089.2(SLC4A11):c.78C>T (p.Phe26=) rs35732230 0.00035
NM_001174089.2(SLC4A11):c.2238C>T (p.Ser746=) rs377076488 0.00031
NM_001174089.2(SLC4A11):c.735C>T (p.Ser245=) rs150937996 0.00025
NM_001174089.2(SLC4A11):c.2226G>A (p.Ser742=) rs200879869 0.00024
NM_001174089.2(SLC4A11):c.2136C>T (p.His712=) rs368894887 0.00021
NM_001174089.2(SLC4A11):c.495C>T (p.Thr165=) rs148099705 0.00021
NM_001174089.2(SLC4A11):c.1575C>T (p.Gly525=) rs367716152 0.00014
NM_001174089.2(SLC4A11):c.2058C>G (p.Leu686=) rs141079217 0.00013
NM_001174089.2(SLC4A11):c.2388+7G>A rs117959552 0.00011
NM_001174089.2(SLC4A11):c.1992C>T (p.Ala664=) rs146674129 0.00010
NM_001174089.2(SLC4A11):c.789C>T (p.Ile263=) rs367721824 0.00010
NM_001174089.2(SLC4A11):c.117C>T (p.Thr39=) rs774713662 0.00008
NM_001174089.2(SLC4A11):c.120C>T (p.Phe40=) rs577502313 0.00006
NM_001174089.2(SLC4A11):c.1890G>A (p.Ala630=) rs376848818 0.00006
NM_001174089.2(SLC4A11):c.242-6C>T rs761855363 0.00006
NM_001174089.2(SLC4A11):c.1671C>T (p.Thr557=) rs370182539 0.00005
NM_001174089.2(SLC4A11):c.1926C>T (p.Val642=) rs755545377 0.00004
NM_001174089.2(SLC4A11):c.242-5G>A rs775424811 0.00004
NM_001174089.2(SLC4A11):c.1503C>T (p.Tyr501=) rs762726449 0.00003
NM_001174089.2(SLC4A11):c.1707C>G (p.Leu569=) rs754759954 0.00003
NM_001174089.2(SLC4A11):c.1524C>T (p.Asp508=) rs747443468 0.00002
NM_001174089.2(SLC4A11):c.2175C>T (p.Asn725=) rs372681319 0.00002
NM_001174089.2(SLC4A11):c.2253G>C (p.Leu751=) rs766549806 0.00002
NM_001174089.2(SLC4A11):c.2389-8G>A rs762782747 0.00002
NM_001174089.2(SLC4A11):c.330G>A (p.Ala110=) rs200345104 0.00002
NM_001174089.2(SLC4A11):c.1002C>T (p.Ile334=) rs200404341 0.00001
NM_001174089.2(SLC4A11):c.1188C>T (p.Ala396=) rs780280857 0.00001
NM_001174089.2(SLC4A11):c.1323C>T (p.Asn441=) rs575773766 0.00001
NM_001174089.2(SLC4A11):c.1578C>T (p.Ala526=) rs1247924686 0.00001
NM_001174089.2(SLC4A11):c.1623C>T (p.Leu541=) rs749478923 0.00001
NM_001174089.2(SLC4A11):c.1911G>A (p.Leu637=) rs771516809 0.00001
NM_001174089.2(SLC4A11):c.2073C>T (p.Asn691=) rs201982813 0.00001
NM_001174089.2(SLC4A11):c.44-35C>T rs777764569 0.00001
NM_001174089.2(SLC4A11):c.633G>A (p.Arg211=) rs756221460 0.00001
NM_001174089.2(SLC4A11):c.2184C>T (p.Ile728=) rs1600561128
NM_001174089.2(SLC4A11):c.2232C>T (p.Gly744=) rs758751670
NM_001174089.2(SLC4A11):c.882C>T (p.His294=) rs973038358

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