ClinVar Miner

List of variants in gene SURF1 reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_003172.4(SURF1):c.573C>G (p.Thr191=) rs28715079 0.05492
NM_003172.4(SURF1):c.280T>C (p.Leu94=) rs28615629 0.04975
NM_003172.4(SURF1):c.167C>G (p.Ala56Gly) rs116779216 0.01318
NM_003172.4(SURF1):c.543C>T (p.Phe181=) rs62637580 0.01036
NM_003172.4(SURF1):c.604G>C (p.Asp202His) rs72619327 0.00517
NM_003172.4(SURF1):c.883C>T (p.Arg295Cys) rs147312193 0.00385
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.688C>T (p.Arg230Ter) rs782623477 0.00007
NM_003172.4(SURF1):c.240+1G>T rs781948238 0.00004
NM_003172.4(SURF1):c.324-11T>C rs375398247 0.00004
NM_003172.4(SURF1):c.36G>A (p.Arg12=) rs888052160 0.00004
NM_003172.4(SURF1):c.574C>T (p.Arg192Trp) rs782190413 0.00004
NM_003172.4(SURF1):c.516-2A>G rs782682492 0.00002
NM_003172.4(SURF1):c.897del (p.Val300fs) rs782010013 0.00002
NM_003172.4(SURF1):c.269T>C (p.Leu90Pro) rs782024654 0.00001
NM_003172.4(SURF1):c.575G>A (p.Arg192Gln) rs782021521 0.00001
NM_003172.4(SURF1):c.751C>T (p.Gln251Ter) rs121918657 0.00001
NM_003172.4(SURF1):c.752-1G>C rs1391748504 0.00001
NM_003172.4(SURF1):c.834G>A (p.Trp278Ter) rs782601312 0.00001
NM_003172.3(SURF1):c.-70_-69del rs967498500
NM_003172.4(SURF1):c.106+1G>C rs863224926
NM_003172.4(SURF1):c.15T>G (p.Ala5=) rs1180014887
NM_003172.4(SURF1):c.17C>A (p.Ala6Glu) rs587727919
NM_003172.4(SURF1):c.183_186del (p.Leu62fs) rs1433471292
NM_003172.4(SURF1):c.211G>T (p.Val71Leu) rs147993882
NM_003172.4(SURF1):c.22C>T (p.Gln8Ter) rs1836590782
NM_003172.4(SURF1):c.281dup (p.Leu94fs) rs1588691786
NM_003172.4(SURF1):c.312_321delinsAT (p.Pro104_Leu105insTer) rs863224228
NM_003172.4(SURF1):c.367_368del (p.Arg123fs) rs2119083553
NM_003172.4(SURF1):c.532_535del (p.Asn178fs) rs1057517942
NM_003172.4(SURF1):c.534_535del (p.Asn178fs) rs1242159511
NM_003172.4(SURF1):c.551G>A (p.Arg184Lys)
NM_003172.4(SURF1):c.552del (p.Lys185fs) rs782542152
NM_003172.4(SURF1):c.574_575insCTGC (p.Arg192fs) rs782289759
NM_003172.4(SURF1):c.584G>T (p.Gly195Val)
NM_003172.4(SURF1):c.631_632del (p.Glu211fs) rs1554768333
NM_003172.4(SURF1):c.737T>C (p.Ile246Thr)
NM_003172.4(SURF1):c.754_755del rs782007828
NM_003172.4(SURF1):c.758_759del (p.Thr253fs) rs782349178
NM_003172.4(SURF1):c.773_774del (p.Pro258fs)
NM_003172.4(SURF1):c.792_793del (p.Arg264fs) rs782490558
NM_003172.4(SURF1):c.809_826dup (p.Glu270_Ile275dup) rs782161777
NM_003172.4(SURF1):c.813_818dup (p.His271_Leu272dup) rs782488388
NM_003172.4(SURF1):c.817C>T (p.Gln273Ter)
NM_003172.4(SURF1):c.833+1G>A rs782609482
NM_003172.4(SURF1):c.833+1G>C rs782609482
NM_003172.4(SURF1):c.845_846del (p.Ser282fs) rs782316919
NM_003172.4(SURF1):c.867G>A (p.Trp289Ter) rs2119079745
NM_003172.4(SURF1):c.870dup (p.Lys291Ter) rs782061187

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