List of variants studied for congenital anomaly of cardiovascular system by Centogene AG - the Rare Disease Company

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		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000335.5(SCN5A):c.6043G>A (p.Val2015Met)	rs762981322	0.00004
NM_001368067.1(LDB3):c.333C>G (p.Asn111Lys)	rs369470035	0.00004
NM_138295.5(PKD1L1):c.-15C>T	rs375091152	0.00003
NM_001148.6(ANK2):c.4502C>T (p.Pro1501Leu)	rs201071074	0.00001
NM_138295.5(PKD1L1):c.6396G>A (p.Trp2132Ter)	rs765720584	0.00001
NM_000719.7(CACNA1C):c.2451del (p.Ala818fs)	rs2153231721
NM_000719.7(CACNA1C):c.5445-496G>A	rs2153815776
NM_001276345.2(TNNT2):c.547C>T (p.Arg183Trp)	rs727503512
NM_001292034.3(TAB2):c.1526del (p.Pro509fs)	rs1781533816
NM_020774.4(MIB1):c.2039del (p.Gln680fs)	rs757527279

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