ClinVar Miner

List of variants in gene SURF1 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 87
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HGVS dbSNP gnomAD frequency
NC_000009.12:g.133351735= rs484248 0.47130
NM_003172.4(SURF1):c.106+81G>C rs59358281 0.28937
NM_003172.4(SURF1):c.833+27C>T rs2021976 0.07984
NM_003172.4(SURF1):c.*118T>C rs4962133 0.05734
NM_003172.4(SURF1):c.515+213A>G rs34847665 0.05728
NM_003172.4(SURF1):c.515+276C>T rs28483151 0.05728
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.752-65A>T rs183853102 0.03605
NM_003172.4(SURF1):c.106+250A>G rs111324588 0.02010
NM_003172.4(SURF1):c.751+6T>C rs41296099 0.01414
NM_003172.4(SURF1):c.167C>G (p.Ala56Gly) rs116779216 0.01318
NM_003172.4(SURF1):c.324-339A>C rs73550806 0.01056
NM_003172.4(SURF1):c.543C>T (p.Phe181=) rs62637580 0.01036
NM_003172.4(SURF1):c.323+229G>A rs116570262 0.00656
NM_003172.4(SURF1):c.107-294C>T rs28436827 0.00645
NM_003172.4(SURF1):c.604G>C (p.Asp202His) rs72619327 0.00517
NM_003172.4(SURF1):c.516-166G>C rs144183901 0.00448
NM_003172.4(SURF1):c.516-213G>C rs146542486 0.00448
NM_003172.4(SURF1):c.883C>T (p.Arg295Cys) rs147312193 0.00385
NM_003172.4(SURF1):c.516-140G>A rs114540295 0.00369
NM_003172.4(SURF1):c.834-13T>C rs139870012 0.00318
NM_003172.4(SURF1):c.*47G>A rs138050767 0.00242
NM_003172.4(SURF1):c.833+13C>T rs368685731 0.00027
NM_003172.4(SURF1):c.108G>A (p.Gly36=) rs201675965 0.00024
NM_003172.4(SURF1):c.657G>A (p.Glu219=) rs149494670 0.00019
NM_003172.4(SURF1):c.745A>G (p.Asn249Asp) rs587669420 0.00016
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.240+9C>T rs376459836 0.00009
NM_003172.4(SURF1):c.-25G>A rs925169754 0.00008
NM_003172.4(SURF1):c.879C>T (p.Phe293=) rs145088629 0.00008
NM_003172.4(SURF1):c.321C>T (p.Ala107=) rs141425824 0.00007
NM_003172.4(SURF1):c.688C>T (p.Arg230Ter) rs782623477 0.00007
NM_003172.4(SURF1):c.751+4C>T rs782184113 0.00006
NM_003172.4(SURF1):c.807C>T (p.Asn269=) rs150726485 0.00006
NM_003172.4(SURF1):c.322G>A (p.Asp108Asn) rs863224226 0.00005
NM_003172.4(SURF1):c.240+1G>T rs781948238 0.00004
NM_003172.4(SURF1):c.574C>T (p.Arg192Trp) rs782190413 0.00004
NM_003172.4(SURF1):c.751+5G>A rs781934508 0.00003
NM_003172.4(SURF1):c.409C>T (p.Arg137Trp) rs373551988 0.00002
NM_003172.4(SURF1):c.447C>T (p.Gly149=) rs782511878 0.00002
NM_003172.4(SURF1):c.516-2A>G rs782682492 0.00002
NM_003172.4(SURF1):c.516-8T>C rs374829956 0.00002
NM_003172.4(SURF1):c.586C>T (p.Gln196Ter) rs147816470 0.00002
NM_003172.4(SURF1):c.107-19G>A rs782610286 0.00001
NM_003172.4(SURF1):c.209C>G (p.Pro70Arg) rs781953110 0.00001
NM_003172.4(SURF1):c.241-7A>C rs997493975 0.00001
NM_003172.4(SURF1):c.269T>C (p.Leu90Pro) rs782024654 0.00001
NM_003172.4(SURF1):c.40G>A (p.Ala14Thr) rs863224224 0.00001
NM_003172.4(SURF1):c.491C>T (p.Thr164Ile) rs782214884 0.00001
NM_003172.4(SURF1):c.751C>T (p.Gln251Ter) rs121918657 0.00001
NM_003172.4(SURF1):c.889A>C (p.Thr297Pro) rs782620122 0.00001
NM_003172.4(SURF1):c.900G>C (p.Val300=) rs781873188 0.00001
NC_000009.12:g.133351736=
NM_003172.2(SURF1):c.-37C>T rs523304
NM_003172.4(SURF1):c.-11_13del (p.Met1_Ala5del) rs863224229
NM_003172.4(SURF1):c.-2C>G
NM_003172.4(SURF1):c.106G>C (p.Gly36Arg) rs1836579970
NM_003172.4(SURF1):c.184C>A (p.Leu62Ile)
NM_003172.4(SURF1):c.241-7A>G rs997493975
NM_003172.4(SURF1):c.312_321delinsAT (p.Pro104_Leu105insTer) rs863224228
NM_003172.4(SURF1):c.323+20C>A rs376340323
NM_003172.4(SURF1):c.324-11T>G rs375398247
NM_003172.4(SURF1):c.367_368del (p.Arg123fs) rs2119083553
NM_003172.4(SURF1):c.380_382delinsCCT (p.Asp127_His128delinsAlaTyr) rs863224230
NM_003172.4(SURF1):c.516-11C>T rs782375599
NM_003172.4(SURF1):c.516-279C>A rs140091505
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.555_556del (p.Lys186fs) rs1363125797
NM_003172.4(SURF1):c.574_575insCTGC (p.Arg192fs) rs782289759
NM_003172.4(SURF1):c.589-1G>T rs863224227
NM_003172.4(SURF1):c.590T>C (p.Ile197Thr) rs782169439
NM_003172.4(SURF1):c.681G>A (p.Trp227Ter) rs1057520688
NM_003172.4(SURF1):c.684T>A (p.His228Gln)
NM_003172.4(SURF1):c.758_759del (p.Thr253fs) rs782349178
NM_003172.4(SURF1):c.771_773delinsG (p.Pro258fs) rs1131691894
NM_003172.4(SURF1):c.792_793del (p.Arg264fs) rs782490558
NM_003172.4(SURF1):c.796dup (p.Thr266fs) rs1554768236
NM_003172.4(SURF1):c.808_822dup (p.Glu270_Tyr274dup) rs782788600
NM_003172.4(SURF1):c.813_818dup (p.His271_Leu272dup) rs782488388
NM_003172.4(SURF1):c.823_833+7del
NM_003172.4(SURF1):c.833+3G>A rs587699821
NM_003172.4(SURF1):c.842T>G (p.Leu281Arg) rs1272896177
NM_003172.4(SURF1):c.845_846del (p.Ser282fs) rs782316919
NM_003172.4(SURF1):c.847G>A (p.Ala283Thr) rs139025632

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