ClinVar Miner

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

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_021619.3(PRDM12):c.127A>G (p.Asn43Asp) rs149449772 0.00016
NM_021619.3(PRDM12):c.993_1013dup (p.His333_Ala339dup) rs1438711270 0.00007
NM_021619.3(PRDM12):c.440G>A (p.Arg147His) rs139807684 0.00006
NM_021619.3(PRDM12):c.566T>C (p.Ile189Thr) rs768492772 0.00006
NM_021619.3(PRDM12):c.655G>A (p.Glu219Lys) rs139266687 0.00006
NM_021619.3(PRDM12):c.682G>C (p.Glu228Gln) rs762081941 0.00005
NM_021619.3(PRDM12):c.1028A>C (p.His343Pro) rs1443107336 0.00004
NM_021619.3(PRDM12):c.422A>G (p.Asn141Ser) rs572272341 0.00004
NM_021619.3(PRDM12):c.182C>T (p.Thr61Ile) rs748893320 0.00003
NM_021619.3(PRDM12):c.430G>A (p.Gly144Ser) rs141272501 0.00003
NM_021619.3(PRDM12):c.620A>G (p.Asn207Ser) rs756533687 0.00003
NM_021619.3(PRDM12):c.159G>C (p.Lys53Asn) rs755779307 0.00002
NM_021619.3(PRDM12):c.538A>G (p.Ile180Val) rs375684006 0.00002
NM_021619.3(PRDM12):c.1012C>T (p.Pro338Ser) rs1830902490 0.00001
NM_021619.3(PRDM12):c.1093A>G (p.Met365Val) rs1344661944 0.00001
NM_021619.3(PRDM12):c.472C>T (p.Arg158Trp) rs371786311 0.00001
NM_021619.3(PRDM12):c.508G>A (p.Glu170Lys) rs779851108 0.00001
NM_021619.3(PRDM12):c.522C>A (p.Asn174Lys) rs1162256150 0.00001
NM_021619.3(PRDM12):c.572T>C (p.Met191Thr) rs752370747 0.00001
NM_021619.3(PRDM12):c.640G>A (p.Gly214Ser) rs1176008733 0.00001
NM_021619.3(PRDM12):c.729G>A (p.Met243Ile) rs899015393 0.00001
NM_021619.3(PRDM12):c.78G>T (p.Glu26Asp) rs546473973 0.00001
NC_000009.11:g.(?_133540041)_(133543720_?)dup
NC_000009.11:g.(?_133553896)_(133557056_?)del
NC_000009.11:g.(?_133553896)_(133557056_?)dup
NC_000009.12:g.(?_130664644)_(130681679_?)dup
NC_000009.12:g.(?_130678509)_(130678660_?)del
NM_021619.3(PRDM12):c.1001C>T (p.Ser334Leu)
NM_021619.3(PRDM12):c.1003C>A (p.Pro335Thr) rs1564249834
NM_021619.3(PRDM12):c.1007C>T (p.Ala336Val)
NM_021619.3(PRDM12):c.1013C>A (p.Pro338His)
NM_021619.3(PRDM12):c.1022A>C (p.His341Pro) rs968896860
NM_021619.3(PRDM12):c.1022ACGCGC[3] (p.341HA[3]) rs1288821918
NM_021619.3(PRDM12):c.1023C>A (p.His341Gln)
NM_021619.3(PRDM12):c.1032_1043dup (p.Pro345_Ala348dup) rs1554753223
NM_021619.3(PRDM12):c.1033C>G (p.Pro345Ala) rs2132608634
NM_021619.3(PRDM12):c.1034C>A (p.Pro345His)
NM_021619.3(PRDM12):c.1034C>T (p.Pro345Leu) rs1484358479
NM_021619.3(PRDM12):c.1034_1039dup (p.Pro345_Ala346dup) rs1298266062
NM_021619.3(PRDM12):c.1038_1040del (p.Leu347del) rs1432976326
NM_021619.3(PRDM12):c.1039C>G (p.Leu347Val) rs1564249877
NM_021619.3(PRDM12):c.1041CGC[11] (p.Ala359del) rs752427775
NM_021619.3(PRDM12):c.1041CGC[15] (p.Ala357_Ala359dup) rs752427775
NM_021619.3(PRDM12):c.1041CGC[17] (p.Ala355_Ala359dup) rs752427775
NM_021619.3(PRDM12):c.1041CGC[19] (p.Ala353_Ala359dup) rs752427775
NM_021619.3(PRDM12):c.1041CGC[5] (p.Ala353_Ala359del) rs752427775
NM_021619.3(PRDM12):c.1043_1044insTGC (p.Ala359_His360insAla)
NM_021619.3(PRDM12):c.1044_1045insACC (p.Ala348_Ala349insThr) rs1429038624
NM_021619.3(PRDM12):c.1048_1049insACGCCGCCG (p.Ala349_Ala350insAspAlaAla)
NM_021619.3(PRDM12):c.1049_1050insTGC (p.Ala359dup) rs1830904424
NM_021619.3(PRDM12):c.1067C>T (p.Ala356Val) rs2132608870
NM_021619.3(PRDM12):c.1076C>T (p.Ala359Val)
NM_021619.3(PRDM12):c.1076_1077insCTC (p.Ala359_His360insSer) rs2132608912
NM_021619.3(PRDM12):c.1085T>A (p.Leu362Gln)
NM_021619.3(PRDM12):c.1095G>A (p.Met365Ile) rs2132608956
NM_021619.3(PRDM12):c.128A>G (p.Asn43Ser)
NM_021619.3(PRDM12):c.161G>A (p.Ser54Asn)
NM_021619.3(PRDM12):c.16C>A (p.Leu6Ile)
NM_021619.3(PRDM12):c.16C>T (p.Leu6Phe)
NM_021619.3(PRDM12):c.173G>C (p.Ser58Thr)
NM_021619.3(PRDM12):c.20C>T (p.Pro7Leu) rs779277068
NM_021619.3(PRDM12):c.31C>A (p.Leu11Met)
NM_021619.3(PRDM12):c.431G>C (p.Gly144Ala)
NM_021619.3(PRDM12):c.433A>C (p.Thr145Pro) rs1830750761
NM_021619.3(PRDM12):c.439C>T (p.Arg147Cys)
NM_021619.3(PRDM12):c.46G>C (p.Gly16Arg) rs759815395
NM_021619.3(PRDM12):c.476G>A (p.Ser159Asn)
NM_021619.3(PRDM12):c.499G>A (p.Ala167Thr) rs1554752141
NM_021619.3(PRDM12):c.503G>A (p.Arg168His) rs1049529374
NM_021619.3(PRDM12):c.515A>G (p.Glu172Gly) rs2132591436
NM_021619.3(PRDM12):c.541G>A (p.Gly181Ser)
NM_021619.3(PRDM12):c.547A>G (p.Ser183Gly)
NM_021619.3(PRDM12):c.59C>A (p.Pro20Gln) rs1339705107
NM_021619.3(PRDM12):c.62G>A (p.Gly21Glu) rs2132586504
NM_021619.3(PRDM12):c.662A>C (p.Asp221Ala)
NM_021619.3(PRDM12):c.667A>C (p.Lys223Gln) rs764418424
NM_021619.3(PRDM12):c.681T>C (p.His227=) rs2132604435
NM_021619.3(PRDM12):c.767_790dup (p.Ser256_Arg263dup) rs2132608047
NM_021619.3(PRDM12):c.794A>C (p.His265Pro)
NM_021619.3(PRDM12):c.831C>G (p.Asn277Lys) rs995100590
NM_021619.3(PRDM12):c.866A>G (p.His289Arg)
NM_021619.3(PRDM12):c.884G>A (p.Gly295Asp)
NM_021619.3(PRDM12):c.890G>T (p.Arg297Leu)
NM_021619.3(PRDM12):c.8G>T (p.Gly3Val) rs2132586397
NM_021619.3(PRDM12):c.972_985dup (p.Ala329fs)
NM_021619.3(PRDM12):c.979A>G (p.Ser327Gly) rs1588190015
NM_021619.3(PRDM12):c.986C>T (p.Ala329Val) rs1238828425
NM_021619.3(PRDM12):c.989T>C (p.Leu330Pro)
NM_021619.3(PRDM12):c.992_1012dup (p.Gln331_Leu337dup) rs1220406010
NM_021619.3(PRDM12):c.995C>T (p.Ala332Val) rs773010364
NM_021619.3(PRDM12):c.996_1016dup (p.Ala339_Pro340insHisSerProAlaLeuProAla)

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