ClinVar Miner

List of variants reported as likely pathogenic for Short-rib thoracic dysplasia 3 with or without polydactyly

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Total variants: 14
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HGVS dbSNP
NM_001080463.1(DYNC2H1):c.10121G>A (p.Arg3374His) rs759549373
NM_001080463.1(DYNC2H1):c.10121G>T (p.Arg3374Leu) rs759549373
NM_001080463.1(DYNC2H1):c.10343T>C (p.Leu3448Pro) rs771487311
NM_001080463.1(DYNC2H1):c.10594C>T (p.Arg3532Ter) rs181011657
NM_001080463.1(DYNC2H1):c.2353C>T (p.Arg785Ter) rs755883373
NM_001080463.1(DYNC2H1):c.3638T>G (p.Leu1213Arg) rs886039812
NM_001080463.1(DYNC2H1):c.4267C>T (p.Arg1423Cys) rs745870321
NM_001080463.1(DYNC2H1):c.4625C>T (p.Ala1542Val) rs1043384862
NM_001377.3(DYNC2H1):c.10594C>T (p.Gln3532Ter)
NM_001377.3(DYNC2H1):c.6387G>T (p.Trp2129Cys)
NM_001377.3(DYNC2H1):c.6834G>T (p.Trp2278Cys)
NM_001377.3(DYNC2H1):c.8339T>C (p.Leu2780Ser)
NM_152766.4(TMEM256):c.244_265del (p.Phe82Glufs) rs886039795
NM_174905.3(FAM98C):c.844C>T (p.Arg282Ter) rs201037487

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