ClinVar Miner

List of variants in gene PRDM12 reported as pathogenic for congenital insensitivity to pain-hypohidrosis syndrome

Included ClinVar conditions (1):
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Total variants: 8
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 9q34.12(chr9:133553916-133554028)
NM_021619.3(PRDM12):c.1041CGC[(15_?)]
NM_021619.3(PRDM12):c.131_138del (p.Val44fs) rs2132586619
NM_021619.3(PRDM12):c.516G>C (p.Glu172Asp) rs755205487
NM_021619.3(PRDM12):c.578dup (p.Pro194fs)
NM_021619.3(PRDM12):c.785T>G (p.Met262Arg) rs2132608070
NM_021619.3(PRDM12):c.866A>T (p.His289Leu) rs879255638
NM_021619.3(PRDM12):c.91G>T (p.Asp31Tyr) rs879255637

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