ClinVar Miner

List of variants in gene DSG2, LOC130062340 studied for Arrhythmogenic right ventricular dysplasia 10

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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_001943.4(DSG2):c.-94G>C rs149048465 0.00607
NM_001943.5(DSG2):c.6G>A (p.Ala2=) rs368809971 0.00193
NM_001943.4(DSG2):c.-79C>G rs552915392 0.00179
NM_001943.5(DSG2):c.45+16G>C rs199519502 0.00177
NM_001943.5(DSG2):c.-55G>C rs551539015 0.00176
NM_001943.5(DSG2):c.44T>A (p.Leu15Gln) rs372174546 0.00054
NM_001943.5(DSG2):c.45+9C>G rs376573409 0.00013
NM_001943.5(DSG2):c.15G>C (p.Pro5=) rs772663614 0.00006
NM_001943.5(DSG2):c.-33G>A rs903231469 0.00004
NM_001943.5(DSG2):c.45+17G>A rs752853934 0.00004
NM_001943.4(DSG2):c.-156G>A rs886053707 0.00003
NM_001943.5(DSG2):c.45+18G>T rs762894860 0.00002
NM_001943.5(DSG2):c.8G>A (p.Arg3Gln) rs979865463 0.00002
NM_001943.4(DSG2):c.-144G>A rs1478833586 0.00001
NM_001943.4(DSG2):c.-178G>A rs1367107745 0.00001
NM_001943.5(DSG2):c.31C>T (p.Leu11=) rs1220091298 0.00001
NM_001943.5(DSG2):c.3G>A (p.Met1Ile) rs1021457619 0.00001
NM_001943.5(DSG2):c.45+19A>G rs764211843 0.00001
NM_001943.4(DSG2):c.-135A>T rs886053709
NM_001943.5(DSG2):c.10A>C (p.Ser4Arg)
NM_001943.5(DSG2):c.10A>G (p.Ser4Gly) rs1415117974
NM_001943.5(DSG2):c.11_12insGCGAGGGTGCGATGGCACGGAG (p.Ser4fs)
NM_001943.5(DSG2):c.12C>T (p.Ser4=)
NM_001943.5(DSG2):c.13C>G (p.Pro5Ala)
NM_001943.5(DSG2):c.14C>T (p.Pro5Leu) rs530517936
NM_001943.5(DSG2):c.20G>C (p.Arg7Pro)
NM_001943.5(DSG2):c.26A>T (p.Tyr9Phe) rs2144276572
NM_001943.5(DSG2):c.27C>A (p.Tyr9Ter) rs1452179158
NM_001943.5(DSG2):c.30C>A (p.Ala10=) rs1568098547
NM_001943.5(DSG2):c.31C>G (p.Leu11Val)
NM_001943.5(DSG2):c.32T>G (p.Leu11Arg) rs2144276606
NM_001943.5(DSG2):c.33G>C (p.Leu11=)
NM_001943.5(DSG2):c.37C>T (p.Leu13Phe) rs1276147010
NM_001943.5(DSG2):c.39T>G (p.Leu13=)
NM_001943.5(DSG2):c.42C>T (p.Leu14=) rs1555669691
NM_001943.5(DSG2):c.42_44del (p.Leu15del) rs2072994567
NM_001943.5(DSG2):c.45+10G>A rs776975980
NM_001943.5(DSG2):c.45+10G>T rs776975980
NM_001943.5(DSG2):c.45+15del
NM_001943.5(DSG2):c.45+18G>A
NM_001943.5(DSG2):c.45+1G>A rs1568098570
NM_001943.5(DSG2):c.45+1G>C rs1568098570
NM_001943.5(DSG2):c.45+1G>T rs1568098570
NM_001943.5(DSG2):c.45+2T>C
NM_001943.5(DSG2):c.45+5G>C rs1423214260
NM_001943.5(DSG2):c.45+6T>C rs2072994676
NM_001943.5(DSG2):c.45+8C>T
NM_001943.5(DSG2):c.45+9C>T rs376573409
NM_001943.5(DSG2):c.7C>G (p.Arg3Gly)

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