ClinVar Miner

Variants in gene SH3PXD2B with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 18
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HGVS dbSNP gnomAD frequency
NM_001017995.3(SH3PXD2B):c.1712C>T (p.Pro571Leu) rs111230322 0.01893
NM_001017995.3(SH3PXD2B):c.1062+15G>A rs111572530 0.01650
NM_001017995.3(SH3PXD2B):c.522C>T (p.Ser174=) rs76299613 0.01422
NM_001017995.3(SH3PXD2B):c.2477C>T (p.Pro826Leu) rs73317796 0.01063
NM_001017995.3(SH3PXD2B):c.986C>T (p.Pro329Leu) rs75198607 0.01032
NM_001017995.3(SH3PXD2B):c.1543G>A (p.Asp515Asn) rs62621449 0.00992
NM_001017995.3(SH3PXD2B):c.232+4G>A rs79926304 0.00899
NM_001017995.3(SH3PXD2B):c.1638G>A (p.Thr546=) rs73317800 0.00411
NM_001017995.3(SH3PXD2B):c.1333A>G (p.Thr445Ala) rs146081598 0.00344
NM_001017995.3(SH3PXD2B):c.843G>A (p.Glu281=) rs138021995 0.00215
NM_001017995.3(SH3PXD2B):c.996C>T (p.Asp332=) rs142552959 0.00062
NM_001017995.3(SH3PXD2B):c.1602G>A (p.Gly534=) rs144228973 0.00061
NM_001017995.3(SH3PXD2B):c.1705A>T (p.Ile569Phe) rs567930218 0.00055
NM_001017995.3(SH3PXD2B):c.453C>T (p.Pro151=) rs143060223 0.00011
NM_001017995.3(SH3PXD2B):c.1063-7G>T rs186443822
NM_001017995.3(SH3PXD2B):c.1612GAGCGG[2] (p.538ER[2]) rs534091900
NM_001017995.3(SH3PXD2B):c.1672G>A (p.Gly558Ser) rs536952235
NM_001017995.3(SH3PXD2B):c.884C>A (p.Pro295Gln) rs77955907

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