ClinVar Miner

List of variants in gene WFS1 reported by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_006005.3(WFS1):c.1554G>A (p.Met518Ile) rs138232538 0.00202
NM_006005.3(WFS1):c.227G>T (p.Gly76Val) rs200135768 0.00197
NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser) rs146132083 0.00076
NM_006005.3(WFS1):c.2233G>A (p.Gly745Ser) rs139185707 0.00068
NM_006005.3(WFS1):c.1706C>T (p.Ala569Val) rs144492050 0.00042
NM_006005.3(WFS1):c.1610G>A (p.Cys537Tyr) rs199910987 0.00034
NM_006005.3(WFS1):c.325C>T (p.His109Tyr) rs112871383 0.00029
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln) rs71539657 0.00028
NM_006005.3(WFS1):c.2314C>T (p.Arg772Cys) rs149540655 0.00023
NM_006005.3(WFS1):c.1123C>T (p.Arg375Cys) rs200095753 0.00019
NM_006005.3(WFS1):c.1820C>T (p.Pro607Leu) rs373862003 0.00019
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) rs200672755 0.00016
NM_006005.3(WFS1):c.2365G>A (p.Gly789Ser) rs376974936 0.00016
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) rs71530923 0.00013
NM_006005.3(WFS1):c.728C>T (p.Ala243Val) rs147147660 0.00012
NM_006005.3(WFS1):c.2603G>A (p.Arg868His) rs56393026 0.00010
NM_006005.3(WFS1):c.1478T>C (p.Val493Ala) rs767366742 0.00009
NM_006005.3(WFS1):c.1657G>A (p.Gly553Ser) rs150840308 0.00009
NM_006005.3(WFS1):c.1759C>T (p.Arg587Trp) rs138968466 0.00009
NM_006005.3(WFS1):c.2347T>C (p.Phe783Leu) rs71526461 0.00009
NM_006005.3(WFS1):c.976G>A (p.Ala326Thr) rs200790641 0.00009
NM_006005.3(WFS1):c.2134A>G (p.Ile712Val) rs574657627 0.00008
NM_006005.3(WFS1):c.1297G>A (p.Ala433Thr) rs138771366 0.00006
NM_006005.3(WFS1):c.1886G>A (p.Arg629Gln) rs146670741 0.00006
NM_006005.3(WFS1):c.656T>C (p.Val219Ala) rs373662682 0.00006
NM_006005.3(WFS1):c.1471G>A (p.Val491Met) rs143597170 0.00005
NM_006005.3(WFS1):c.1684G>A (p.Gly562Ser) rs753237278 0.00005
NM_006005.3(WFS1):c.1237T>G (p.Phe413Val) rs71524356 0.00004
NM_006005.3(WFS1):c.1883C>T (p.Thr628Met) rs368236000 0.00003
NM_006005.3(WFS1):c.818A>C (p.Glu273Ala) rs546948362 0.00003
NM_006005.3(WFS1):c.304G>A (p.Ala102Thr) rs1252423572 0.00002
NM_006005.3(WFS1):c.1623T>G (p.Cys541Trp) rs745712429 0.00001
NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter) rs771409809 0.00001
NM_006005.3(WFS1):c.211C>T (p.Arg71Trp) rs773502513 0.00001
NM_006005.3(WFS1):c.2555_2560dup (p.Gln853_Leu854insProGln) rs730880368 0.00001
NM_006005.3(WFS1):c.641C>T (p.Ala214Val) rs750861249 0.00001
NM_006005.3(WFS1):c.716A>G (p.Lys239Arg) rs727503747 0.00001
NM_006005.3(WFS1):c.883G>A (p.Ala295Thr) rs537052067 0.00001
NM_006005.3(WFS1):c.1084C>T (p.Leu362Phe)
NM_006005.3(WFS1):c.1187A>C (p.Asn396Thr)
NM_006005.3(WFS1):c.1235T>A (p.Val412Asp) rs144951440
NM_006005.3(WFS1):c.1274A>C (p.Asp425Ala)
NM_006005.3(WFS1):c.1399C>A (p.Leu467Met)
NM_006005.3(WFS1):c.1421T>G (p.Met474Arg)
NM_006005.3(WFS1):c.1492G>C (p.Val498Leu)
NM_006005.3(WFS1):c.154C>T (p.Pro52Ser) rs111773340
NM_006005.3(WFS1):c.1558C>G (p.Gln520Glu) rs377544135
NM_006005.3(WFS1):c.1681A>G (p.Ile561Val) rs766673431
NM_006005.3(WFS1):c.1739T>A (p.Val580Glu) rs140773453
NM_006005.3(WFS1):c.175G>T (p.Ala59Ser) rs867512186
NM_006005.3(WFS1):c.1892C>G (p.Ser631Cys)
NM_006005.3(WFS1):c.1941C>A (p.Cys647Ter)
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) rs387906930
NM_006005.3(WFS1):c.2160C>G (p.Ile720Met)
NM_006005.3(WFS1):c.2165T>C (p.Met722Thr)
NM_006005.3(WFS1):c.2251G>A (p.Glu751Lys) rs147465252
NM_006005.3(WFS1):c.2251G>C (p.Glu751Gln) rs147465252
NM_006005.3(WFS1):c.2278C>A (p.Leu760Met) rs1553878931
NM_006005.3(WFS1):c.2284A>G (p.Lys762Glu)
NM_006005.3(WFS1):c.2354G>T (p.Ser785Ile)
NM_006005.3(WFS1):c.2385G>C (p.Glu795Asp) rs373310972
NM_006005.3(WFS1):c.2432A>G (p.Lys811Arg) rs557048986
NM_006005.3(WFS1):c.2449C>A (p.Leu817Met)
NM_006005.3(WFS1):c.2459G>A (p.Gly820Asp) rs764842865
NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro) rs104893883
NM_006005.3(WFS1):c.2615A>G (p.His872Arg) rs751835613
NM_006005.3(WFS1):c.2638G>C (p.Asp880His) rs776324301
NM_006005.3(WFS1):c.2646T>A (p.Phe882Leu)
NM_006005.3(WFS1):c.354T>A (p.Asp118Glu)
NM_006005.3(WFS1):c.623A>G (p.Asn208Ser) rs776488772
NM_006005.3(WFS1):c.897C>G (p.Ile299Met)
NM_006005.3(WFS1):c.995T>C (p.Ile332Thr)

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