ClinVar Miner

List of variants studied for Tibial muscular dystrophy by GenomeConnect, ClinGen

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp) rs140319117 0.00095
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser) rs141213991 0.00087
NM_001267550.2(TTN):c.82328G>A (p.Arg27443His) rs551496477 0.00001

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