ClinVar Miner

List of variants in gene SURF1 reported as likely benign by GeneDx

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Gene type:
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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_003172.4(SURF1):c.324-339A>C rs73550806 0.01056
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.516-166G>C rs144183901 0.00448
NM_003172.4(SURF1):c.516-213G>C rs146542486 0.00448
NM_003172.4(SURF1):c.516-140G>A rs114540295 0.00369
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.-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.807C>T (p.Asn269=) rs150726485 0.00006
NM_003172.4(SURF1):c.447C>T (p.Gly149=) rs782511878 0.00002
NM_003172.4(SURF1):c.516-8T>C rs374829956 0.00002
NM_003172.4(SURF1):c.107-19G>A rs782610286 0.00001
NM_003172.4(SURF1):c.241-7A>C rs997493975 0.00001
NM_003172.4(SURF1):c.40G>A (p.Ala14Thr) rs863224224 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
NM_003172.4(SURF1):c.241-7A>G rs997493975
NM_003172.4(SURF1):c.323+20C>A rs376340323
NM_003172.4(SURF1):c.516-11C>T rs782375599
NM_003172.4(SURF1):c.516-279C>A rs140091505
NM_003172.4(SURF1):c.833+3G>A rs587699821

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