List of variants reported as pathogenic by Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000049.4(ASPA):c.437_449del (p.Ser146fs)	rs2073669074
NM_000147.5(FUCA1):c.82del (p.Val28fs)	rs1639666186
NM_000520.6(HEXA):c.1147-1G>T	rs2088620169
NM_000521.4(HEXB):c.652ATT[1] (p.Ile219del)	rs1749130533
NM_000527.5(LDLR):c.1010_1013dup (p.Cys338Ter)	rs2077362782
NM_000527.5(LDLR):c.2312-2A>G	rs2077660035
NM_003172.4(SURF1):c.808_812del (p.Glu270fs)	rs1836430953
NM_003730.6(RNASET2):c.233C>A (p.Ser78Ter)	rs1434250650
NM_015166.4(MLC1):c.183C>A (p.Cys61Ter)	rs1436214826
NM_015627.3(LDLRAP1):c.649G>T (p.Glu217Ter)	rs2044402416
NM_020435.4(GJC2):c.575dup (p.Thr195fs)	rs1064795865
NM_024884.3(L2HGDH):c.408+1G>C	rs2030438427

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