ClinVar Miner

List of variants in gene WFS1 reported as uncertain significance by Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic

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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_006005.3(WFS1):c.1500C>T (p.Asn500=) rs1801214 0.63787
NM_006005.3(WFS1):c.1185C>T (p.Val395=) rs1801206 0.56648
NM_006005.3(WFS1):c.1367G>A (p.Arg456His) rs1801208 0.04977
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874 0.00761
NM_006005.3(WFS1):c.917T>C (p.Met306Thr) rs146114074 0.00389
NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn) rs3821945 0.00185
NM_006005.3(WFS1):c.1779G>C (p.Glu593Asp) rs144783536 0.00063
NM_006005.3(WFS1):c.92C>G (p.Ala31Gly) rs550975729 0.00039
NM_006005.3(WFS1):c.*366_*369del rs71537671 0.00032
NM_006005.3(WFS1):c.647C>G (p.Pro216Arg) rs141233896 0.00032
NM_006005.3(WFS1):c.1265C>T (p.Ala422Val) rs150368988 0.00029
NM_006005.3(WFS1):c.325C>T (p.His109Tyr) rs112871383 0.00029
NM_006005.3(WFS1):c.2248G>A (p.Ala750Thr) rs201335980 0.00009
NM_006005.3(WFS1):c.2134A>G (p.Ile712Val) rs574657627 0.00008
NM_006005.3(WFS1):c.1135G>A (p.Asp379Asn) rs772554352 0.00006
NM_006005.3(WFS1):c.1393G>A (p.Ala465Thr) rs71524357 0.00004
NM_006005.3(WFS1):c.1184T>A (p.Val395Asp) rs769744865 0.00003
NM_006005.3(WFS1):c.133G>A (p.Gly45Arg) rs1014892217 0.00003
NM_006005.3(WFS1):c.1717C>G (p.Leu573Val) rs749172015 0.00003
NM_006005.3(WFS1):c.2164A>G (p.Met722Val) rs778958194 0.00003
NM_006005.3(WFS1):c.1396G>A (p.Gly466Ser) rs727503750 0.00001
NM_006005.3(WFS1):c.1510C>A (p.Pro504Thr) rs1064797305 0.00001
NM_006005.3(WFS1):c.176C>T (p.Ala59Val) rs71524365 0.00001
NM_006005.3(WFS1):c.1799C>G (p.Thr600Ser) rs886059530 0.00001
NM_006005.3(WFS1):c.2129C>G (p.Thr710Ser) rs200136995 0.00001
NM_006005.3(WFS1):c.631+5G>A rs863224261 0.00001
NM_006005.3(WFS1):c.883G>A (p.Ala295Thr) rs537052067 0.00001
NM_006005.3(WFS1):c.*356_*357insTT rs568320906
NM_006005.3(WFS1):c.*357CTTT[2] rs373643818
NM_006005.3(WFS1):c.*365_*369del rs886059535
NM_006005.3(WFS1):c.*683delinsTGTGGGGGA rs886059540
NM_006005.3(WFS1):c.*724_*727del rs71537674
NM_006005.3(WFS1):c.1014C>G (p.Ile338Met) rs748353498
NM_006005.3(WFS1):c.128C>T (p.Ala43Val) rs727503746
NM_006005.3(WFS1):c.1831_1832delinsTA (p.Arg611Tyr) rs863224266
NM_006005.3(WFS1):c.1930G>A (p.Val644Met) rs141570700
NM_006005.3(WFS1):c.1947C>G (p.Phe649Leu) rs886044044
NM_006005.3(WFS1):c.2135T>C (p.Ile712Thr) rs1730943627
NM_006005.3(WFS1):c.2372G>A (p.Arg791His) rs775659531
NM_006005.3(WFS1):c.2563_2565delinsCCG (p.Ser855Pro) rs1560422132
NM_006005.3(WFS1):c.2570C>T (p.Thr857Ile) rs573202595
NM_006005.3(WFS1):c.2638G>A (p.Asp880Asn) rs776324301
NM_006005.3(WFS1):c.2651T>A (p.Phe884Tyr) rs863224263
NM_006005.3(WFS1):c.361C>A (p.Leu121Ile) rs1553876675
NM_006005.3(WFS1):c.61C>G (p.Pro21Ala) rs757447631
NM_006005.3(WFS1):c.667C>A (p.Leu223Met) rs1057524889
NM_006005.3(WFS1):c.872A>G (p.Tyr291Cys) rs1730845682
NM_006005.3(WFS1):c.889A>G (p.Met297Val) rs1553878254

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