ClinVar Miner

List of variants in gene DSG2 reported as uncertain significance by Ambry Genetics

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Total variants: 27
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HGVS dbSNP
NM_001943.5(DSG2):c.1000G>A (p.Val334Met) rs761360851
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916
NM_001943.5(DSG2):c.1159C>G (p.His387Asp) rs886039173
NM_001943.5(DSG2):c.1297G>T (p.Asp433Tyr) rs938919152
NM_001943.5(DSG2):c.1355T>G (p.Leu452Arg) rs763810935
NM_001943.5(DSG2):c.1478A>G (p.Asn493Ser) rs375679311
NM_001943.5(DSG2):c.14C>T (p.Pro5Leu) rs530517936
NM_001943.5(DSG2):c.1792G>A (p.Gly598Ser) rs773666300
NM_001943.5(DSG2):c.1847C>T (p.Ala616Val) rs375527314
NM_001943.5(DSG2):c.1912G>A (p.Gly638Arg) rs201564919
NM_001943.5(DSG2):c.208A>G (p.Ile70Val) rs769713919
NM_001943.5(DSG2):c.219A>G (p.Ile73Met) rs748445394
NM_001943.5(DSG2):c.2434G>A (p.Gly812Ser) rs121913010
NM_001943.5(DSG2):c.2575A>G (p.Thr859Ala) rs886039011
NM_001943.5(DSG2):c.2614G>C (p.Glu872Gln) rs754057911
NM_001943.5(DSG2):c.2702A>G (p.Lys901Arg) rs886039190
NM_001943.5(DSG2):c.2792G>A (p.Arg931Lys) rs886039205
NM_001943.5(DSG2):c.3040G>A (p.Val1014Ile) rs200830807
NM_001943.5(DSG2):c.430G>A (p.Glu144Lys) rs199842209
NM_001943.5(DSG2):c.445G>A (p.Val149Ile) rs372606274
NM_001943.5(DSG2):c.545A>G (p.Asn182Ser) rs368512832
NM_001943.5(DSG2):c.829-4G>A rs376424003
NM_001943.5(DSG2):c.862G>A (p.Val288Ile) rs780374242
NM_001943.5(DSG2):c.877A>T (p.Ile293Leu) rs2230234
NM_001943.5(DSG2):c.919C>G (p.Leu307Val) rs1052070604
NM_001943.5(DSG2):c.967A>G (p.Ile323Val) rs886039096
NM_001943.5(DSG2):c.977A>T (p.Asp326Val) rs769699241

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