ClinVar Miner

List of variants studied for Arrhythmogenic right ventricular dysplasia 10 by Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln) rs121913008 0.00001
NM_001943.5(DSG2):c.146G>A (p.Arg49His) rs121913006
NM_001943.5(DSG2):c.1826dup (p.Leu610fs) rs1039633976
NM_001943.5(DSG2):c.2533del (p.Lys844_Ile845insTer) rs1375081885
NM_001943.5(DSG2):c.2817del (p.Tyr940fs) rs1567934773
NM_001943.5(DSG2):c.2857del (p.Leu953fs) rs2073308127
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs) rs397516706
NM_001943.5(DSG2):c.512_516del (p.Leu171fs) rs1568105371
NM_002734.5(PRKAR1A):c.565_566insC (p.Glu189fs) rs2143321666

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