ClinVar Miner

List of variants in gene SRPX2 reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_014467.3(SRPX2):c.1030C>A (p.Leu344Ile) rs149051060 0.00131
NM_014467.3(SRPX2):c.980A>G (p.Asn327Ser) rs121918363 0.00041
NM_014467.3(SRPX2):c.981C>G (p.Asn327Lys) rs370033099 0.00009
NM_014467.3(SRPX2):c.248T>C (p.Leu83Pro) rs141168255 0.00007
NM_014467.3(SRPX2):c.1012T>A (p.Phe338Ile) rs147566410 0.00005
NM_014467.3(SRPX2):c.127G>A (p.Glu43Lys) rs755987679 0.00005
NM_014467.3(SRPX2):c.224A>T (p.Lys75Met) rs767072861 0.00005
NM_014467.3(SRPX2):c.1217+2T>A rs1477194587 0.00001
NM_014467.3(SRPX2):c.23G>A (p.Arg8Lys) rs1382205262 0.00001
NM_014467.3(SRPX2):c.277C>T (p.Arg93Trp) rs796053342 0.00001
NM_014467.3(SRPX2):c.817G>A (p.Gly273Ser) rs1199709114 0.00001
NM_014467.3(SRPX2):c.943T>C (p.Ser315Pro) rs796053344 0.00001
NM_014467.3(SRPX2):c.1016A>G (p.Tyr339Cys) rs2083207962
NM_014467.3(SRPX2):c.1099del (p.Ser367fs) rs1556013967
NM_014467.3(SRPX2):c.1135A>G (p.Ile379Val) rs1185487539
NM_014467.3(SRPX2):c.1157C>T (p.Pro386Leu) rs2147651526
NM_014467.3(SRPX2):c.1177C>T (p.Arg393Trp) rs796053345
NM_014467.3(SRPX2):c.160C>T (p.Arg54Ter) rs772122754
NM_014467.3(SRPX2):c.256C>T (p.Arg86Cys) rs796053347
NM_014467.3(SRPX2):c.533-1G>A rs796053343
NM_014467.3(SRPX2):c.751G>A (p.Ala251Thr) rs746147592

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