List of variants studied for congenital heart disease by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

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Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)	rs200411226	0.00004
NM_000238.4(KCNH2):c.2843G>A (p.Arg948His)	rs199473011	0.00003
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser)	rs199473428	0.00001
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs)	rs397515990	0.00001
GRCh37/hg19 16q24.1-24.2(chr16:84872102-87678641)
NM_000238.4(KCNH2):c.1685A>G (p.His562Arg)	rs199472922
NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys)	rs606231324
NM_000257.4(MYH7):c.2642T>G (p.Leu881Arg)	rs1566531303
NM_000257.4(MYH7):c.602T>C (p.Ile201Thr)	rs397516258
NM_001042424.3(NSD2):c.3295G>A (p.Glu1099Lys)	rs772470710
NM_001276345.2(TNNT2):c.644G>C (p.Arg215Pro)	rs121964860
NM_001292034.3(TAB2):c.1321C>T (p.Arg441Ter)	rs1554263321
NM_001292034.3(TAB2):c.622_626del (p.Pro208fs)	rs1781486601
NM_001292034.3(TAB2):c.878del (p.Ser293fs)	rs1554263268
NM_001379200.1(TBX1):c.412G>A (p.Glu138Lys)	rs1445910672
NM_001492.6(GDF1):c.1047_1050del (p.Phe349fs)	rs768027510
NM_001743.6(CALM2):c.396T>G (p.Asp132Glu)	rs398124648
NM_001743.6(CALM2):c.414C>G (p.Asn138Lys)	rs1553431702
NM_002804.5(PSMC3):c.910C>T (p.Arg304Trp)

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