ClinVar Miner

List of variants reported as pathogenic for dermis disorder by OMIM

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_002510.3(GPNMB):c.565C>T (p.Arg189Ter) rs140352180 0.00016
NM_003999.3(OSMR):c.2090A>C (p.Lys697Thr) rs387906823 0.00010
NM_004425.4(ECM1):c.1019del (p.Gln340fs) rs778473713 0.00004
NM_004425.4(ECM1):c.499T>A (p.Phe167Ile) rs121909116 0.00004
NM_058172.6(ANTXR2):c.1074del (p.Ala359fs) rs312262693 0.00004
NM_003999.3(OSMR):c.2081C>T (p.Pro694Leu) rs387906822 0.00003
NM_004425.4(ECM1):c.157C>T (p.Arg53Ter) rs121909115 0.00002
NM_004425.4(ECM1):c.1036C>T (p.Gln346Ter) rs121909114 0.00001
NM_004425.4(ECM1):c.507del (p.Arg171fs) rs869025565 0.00001
NM_014753.4(BMS1):c.2789G>A (p.Arg930His) rs587777706 0.00001
NC_000023.11:g.11106247_11114917del
NM_000222.3(KIT):c.1598C>A (p.Ala533Asp) rs753212327
NM_000222.3(KIT):c.1676T>C (p.Val559Ala) rs121913517
NM_000222.3(KIT):c.2447A>T (p.Asp816Val) rs121913507
NM_000222.3(KIT):c.2459A>G (p.Asp820Gly) rs121913682
NM_000222.3(KIT):c.2465A>T (p.Asn822Ile) rs993022333
NM_000516.7(GNAS):c.348del (p.Val117fs) rs2090848106
NM_000516.7(GNAS):c.565_568del (p.Asp189fs) rs587776829
NM_000516.7(GNAS):c.725del (p.Thr242fs) rs1601163749
NM_000516.7(GNAS):c.860_861del (p.Val287fs)
NM_001135998.3(NDUFB11):c.262C>T (p.Arg88Ter) rs786205225
NM_001135998.3(NDUFB11):c.372del (p.Arg124fs) rs876657384
NM_001142730.3(KCTD1):c.1913C>A (p.Ala638Glu) rs587776998
NM_001142730.3(KCTD1):c.1916C>A (p.Pro639His) rs587776999
NM_001142730.3(KCTD1):c.1916C>G (p.Pro639Arg) rs587776999
NM_001142730.3(KCTD1):c.1916C>T (p.Pro639Leu) rs587776999
NM_001142730.3(KCTD1):c.1922A>C (p.His641Pro) rs587777001
NM_001142730.3(KCTD1):c.1923C>A (p.His641Gln) rs587777000
NM_001142730.3(KCTD1):c.2009G>A (p.Gly670Asp) rs587777003
NM_001142730.3(KCTD1):c.2045A>C (p.His682Pro) rs587777002
NM_001866.2(COX7B):c.55C>T (p.Gln19Ter) rs397514585
NM_001866.3(COX7B):c.196del (p.Leu66fs) rs397514583
NM_001866.3(COX7B):c.41-2A>G rs397514584
NM_002223.4(ITPR2):c.7492G>A (p.Gly2498Ser) rs786204832
NM_002510.3(GPNMB):c.1056del (p.Pro353fs) rs763065333
NM_002510.3(GPNMB):c.296del (p.Asn99fs) rs1554300664
NM_002510.3(GPNMB):c.660T>G (p.Tyr220Ter) rs770211260
NM_002510.3(GPNMB):c.719_720del (p.Val240fs) rs747723062
NM_002510.3(GPNMB):c.877_880del (p.Val293fs) rs773435101
NM_003999.3(OSMR):c.1853G>C (p.Gly618Ala) rs63750560
NM_003999.3(OSMR):c.1940A>T (p.Asp647Val) rs387906821
NM_003999.3(OSMR):c.2072T>C (p.Ile691Thr) rs63750567
NM_004425.4(ECM1):c.1304+35_*302del
NM_004425.4(ECM1):c.480G>A (p.Trp160Ter) rs1560265435
NM_005333.5(HCCS):c.589C>T (p.Arg197Ter) rs121917888
NM_005333.5(HCCS):c.649C>T (p.Arg217Cys) rs121917889
NM_058172.6(ANTXR2):c.1073dup (p.Ala359fs) rs312262690
NM_058172.6(ANTXR2):c.1142A>G (p.Tyr381Cys) rs137852901
NM_058172.6(ANTXR2):c.1179G>A (p.Glu393=) rs546102223
NM_058172.6(ANTXR2):c.314G>A (p.Gly105Asp) rs137852902
NM_058172.6(ANTXR2):c.566T>C (p.Ile189Thr) rs137852905
NM_058172.6(ANTXR2):c.658G>T (p.Glu220Ter) rs137852904
NM_058172.6(ANTXR2):c.986T>G (p.Leu329Arg) rs137852903
NM_139017.7(IL31RA):c.1562C>T (p.Ser521Phe) rs1561123748

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