ClinVar Miner

List of variants reported as likely pathogenic for congenital insensitivity to pain-hypohidrosis syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_021619.3(PRDM12):c.1041CGC[18] (p.Ala354_Ala359dup) rs752427775
NM_021619.3(PRDM12):c.683-1G>A rs2132607877
NM_021619.3(PRDM12):c.742T>G (p.Cys248Gly) rs2132608027
NM_021619.3(PRDM12):c.788G>A (p.Arg263His) rs2132608078

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