ClinVar Miner

List of variants in gene combination HNRNPH2, RPL36A-HNRNPH2 reported as likely pathogenic for X-linked disease

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_019597.5(HNRNPH2):c.85C>T (p.Arg29Cys) rs1555988314 0.00001
NM_019597.5(HNRNPH2):c.460del (p.Glu154fs)
NM_019597.5(HNRNPH2):c.613C>T (p.Gln205Ter)
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_019597.5(HNRNPH2):c.617G>A (p.Arg206Gln) rs886039764
NM_019597.5(HNRNPH2):c.629A>G (p.Tyr210Cys) rs1555988422
NM_019597.5(HNRNPH2):c.635G>C (p.Arg212Thr) rs1928842837

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