ClinVar Miner

List of variants in gene SURF1 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 23
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HGVS dbSNP gnomAD frequency
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.604G>C (p.Asp202His) rs72619327 0.00517
NM_003172.4(SURF1):c.311_312insA (p.Leu105fs) rs764928653 0.00036
NM_003172.4(SURF1):c.313_321del (p.Leu105_Ala107del) rs759270179 0.00036
NM_003172.4(SURF1):c.687T>C (p.Tyr229=) rs373154583 0.00030
NM_003172.4(SURF1):c.350A>C (p.Tyr117Ser) rs145615218 0.00017
NM_003172.4(SURF1):c.577C>G (p.Gln193Glu) rs782420522 0.00007
NM_003172.4(SURF1):c.825C>T (p.Ile275=) rs372660779 0.00006
NM_003172.4(SURF1):c.508G>A (p.Asp170Asn) rs782358655 0.00004
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.107-2A>G rs782726390 0.00001
NM_003172.4(SURF1):c.801G>A (p.Leu267=) rs782120692 0.00001
NM_003172.4(SURF1):c.15T>G (p.Ala5=) rs1180014887
NM_003172.4(SURF1):c.193G>A (p.Val65Ile)
NM_003172.4(SURF1):c.243C>G (p.Val81=) rs1277150134
NM_003172.4(SURF1):c.312_321delinsAT (p.Pro104_Leu105insTer) rs863224228
NM_003172.4(SURF1):c.552del (p.Lys185fs) rs782542152
NM_003172.4(SURF1):c.796_798delinsTG (p.Thr266fs) rs2119080054
NM_003172.4(SURF1):c.808_814dup (p.Leu272fs) rs1554768224
NM_003172.4(SURF1):c.845_846del (p.Ser282fs) rs782316919
NM_003172.4(SURF1):c.870del (p.Phe290fs)

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