ClinVar Miner

Variants in gene RSPH4A 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: 9
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HGVS dbSNP gnomAD frequency
NM_001010892.3(RSPH4A):c.731G>A (p.Arg244His) rs41289942 0.01592
NM_001010892.3(RSPH4A):c.1798+11G>A rs41290844 0.00873
NM_001010892.3(RSPH4A):c.1731A>G (p.Lys577=) rs73765819 0.00679
NM_001010892.3(RSPH4A):c.675G>T (p.Ser225=) rs79327004 0.00290
NM_001010892.3(RSPH4A):c.1080G>C (p.Leu360Phe) rs111375012 0.00144
NM_001010892.3(RSPH4A):c.1974A>G (p.Thr658=) rs142977481 0.00126
NM_001010892.3(RSPH4A):c.307G>T (p.Asp103Tyr) rs139745647 0.00066
NM_001010892.3(RSPH4A):c.*8A>G rs575857124 0.00001
NM_001010892.3(RSPH4A):c.1536G>A (p.Glu512=) rs533664718 0.00001

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