ClinVar Miner

List of variants in gene HNRNPH2, RPL36A-HNRNPH2 studied for X-linked syndromic intellectual disability

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_019597.5(HNRNPH2):c.1320C>T (p.Asn440=) rs3027574 0.03836
NM_019597.5(HNRNPH2):c.85C>T (p.Arg29Cys) rs1555988314 0.00001
NM_019597.5(HNRNPH2):c.1019A>T (p.Asp340Val) rs1928852920
NM_019597.5(HNRNPH2):c.340C>T (p.Arg114Trp) rs782191163
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.626C>T (p.Pro209Leu) rs1555988417
NM_019597.5(HNRNPH2):c.629A>G (p.Tyr210Cys) rs1555988422
NM_019597.5(HNRNPH2):c.635G>C (p.Arg212Thr) rs1928842837
NM_019597.5(HNRNPH2):c.737A>G (p.Tyr246Cys)

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