ClinVar Miner

List of variants in gene DSG2 reported as uncertain significance by CeGaT Praxis fuer Humangenetik Tuebingen

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Gene type:
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Total variants: 13
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HGVS dbSNP
NM_001943.5(DSG2):c.-21_6del (p.Met1_Ala2del)
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013
NM_001943.5(DSG2):c.2065G>A (p.Gly689Ser)
NM_001943.5(DSG2):c.2710C>G (p.Gln904Glu)
NM_001943.5(DSG2):c.2716A>G (p.Ile906Val) rs748894535
NM_001943.5(DSG2):c.2800A>G (p.Ile934Val) rs1469730786
NM_001943.5(DSG2):c.3318A>C (p.Arg1106Ser) rs1598827838
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu) rs113451409
NM_001943.5(DSG2):c.44T>A (p.Leu15Gln) rs372174546
NM_001943.5(DSG2):c.71T>C (p.Leu24Pro)
NM_001943.5(DSG2):c.874C>T (p.Arg292Cys) rs770921270
NM_001943.5(DSG2):c.875G>A (p.Arg292His) rs185821167

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