ClinVar Miner

List of variants studied for Arrhythmogenic right ventricular dysplasia 10 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00060
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu) rs113451409 0.00054
NM_001943.5(DSG2):c.3095C>T (p.Thr1032Ile) rs775546937 0.00005
NM_001943.5(DSG2):c.1885C>T (p.Pro629Ser) rs200804638 0.00004
NM_001943.5(DSG2):c.3039C>A (p.Tyr1013Ter) rs539821357 0.00003
NM_001943.5(DSG2):c.991G>A (p.Glu331Lys) rs121913012 0.00002
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln) rs121913008 0.00001
NM_001943.5(DSG2):c.1035GAA[1] (p.Lys346del) rs727502987
NM_001943.5(DSG2):c.1447G>A (p.Gly483Ser) rs886053714
NM_001943.5(DSG2):c.3036_3037insG (p.Tyr1013fs) rs2073310848
NM_001943.5(DSG2):c.3077G>A (p.Ser1026Asn)
NM_001943.5(DSG2):c.339dup (p.Thr114fs)
NM_001943.5(DSG2):c.495dup (p.Gly166fs) rs781532110
NM_001943.5(DSG2):c.871dup (p.Thr291fs) rs759944835
NM_001943.5(DSG2):c.877A>T (p.Ile293Leu) rs2230234

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