ClinVar Miner

List of variants in gene SURF1 studied for Inborn genetic diseases

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_003172.4(SURF1):c.211G>C (p.Val71Leu) rs147993882 0.00099
NM_003172.4(SURF1):c.563A>G (p.Asn188Ser) rs200702528 0.00010
NM_003172.4(SURF1):c.17C>T (p.Ala6Val) rs587727919 0.00009
NM_003172.4(SURF1):c.893C>G (p.Pro298Arg) rs201822068 0.00008
NM_003172.4(SURF1):c.514G>A (p.Gly172Arg) rs1396233239 0.00003
NM_003172.4(SURF1):c.826G>A (p.Val276Met) rs141561701 0.00003
NM_003172.4(SURF1):c.118A>T (p.Arg40Trp) rs781831910 0.00001
NM_003172.4(SURF1):c.335T>C (p.Leu112Pro) rs782811025 0.00001
NM_003172.4(SURF1):c.808G>A (p.Glu270Lys) rs781924765 0.00001
NM_003172.4(SURF1):c.106G>C (p.Gly36Arg) rs1836579970
NM_003172.4(SURF1):c.211G>T (p.Val71Leu) rs147993882
NM_003172.4(SURF1):c.240G>C (p.Gln80His) rs1554768709
NM_003172.4(SURF1):c.250C>T (p.Arg84Trp)
NM_003172.4(SURF1):c.329T>A (p.Met110Lys)
NM_003172.4(SURF1):c.500A>G (p.His167Arg) rs373251271
NM_003172.4(SURF1):c.510C>G (p.Asp170Glu) rs587683200
NM_003172.4(SURF1):c.754A>C (p.Ser252Arg)
NM_003172.4(SURF1):c.790A>G (p.Arg264Gly)
NM_003172.4(SURF1):c.792_793del (p.Arg264fs) rs782490558
NM_003172.4(SURF1):c.845_846del (p.Ser282fs) rs782316919
NM_003172.4(SURF1):c.870dup (p.Lys291Ter) rs782061187
NM_003172.4(SURF1):c.898G>A (p.Val300Met) rs782746186

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