ClinVar Miner

List of variants reported as not provided for dermis disorder

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_004425.4(ECM1):c.507del (p.Arg171fs) rs869025565 0.00001
NM_000222.3(KIT):c.2447A>T (p.Asp816Val) rs121913507
NM_000516.7(GNAS):c.565_568del (p.Asp189fs) rs587776829
NM_001135998.3(NDUFB11):c.262C>T (p.Arg88Ter) rs786205225
NM_001135998.3(NDUFB11):c.372del (p.Arg124fs) rs876657384
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_004425.4(ECM1):c.506dup (p.Gly170fs) rs869025564
NM_004425.4(ECM1):c.658T>G (p.Cys220Gly) rs869025566
NM_004425.4(ECM1):c.727C>T (p.Arg243Ter) rs746217361
NM_004425.4(ECM1):c.742G>T (p.Glu248Ter) rs369508778
NM_004425.4(ECM1):c.826C>T (p.Gln276Ter) rs869025563
NM_004425.4(ECM1):c.93_94delinsTT (p.Arg31_Gln32delinsSerTer) rs869025567
NM_005333.5(HCCS):c.334G>A (p.Ala112Thr)
NM_005333.5(HCCS):c.475G>A (p.Glu159Lys) rs193929392
NM_005333.5(HCCS):c.589C>T (p.Arg197Ter) rs121917888
NM_005333.5(HCCS):c.649C>T (p.Arg217Cys) rs121917889

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