ClinVar Miner

List of variants studied for hereditary epidermal appendage anomaly by Bone Marrow Failure laboratory, Queen Mary University London

Included ClinVar conditions (217):
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ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_002582.4(PARN):c.918+1G>T rs756132866 0.00001
NM_001071.4(TYMS):c.259G>A (p.Glu87Lys) rs2144258402
NM_001071.4(TYMS):c.343C>T (p.Arg115Ter) rs2046518776
NM_001071.4(TYMS):c.480A>T (p.Gln160His) rs894600614
NM_001071.4(TYMS):c.486_487del (p.Arg163fs) rs2144335544
NM_001071.4(TYMS):c.534_535insTG (p.Met179Ter) rs2144335824
NM_001071.4(TYMS):c.556+1G>A rs2144335968
NM_001071.4(TYMS):c.811C>T (p.Arg271Ter) rs1703168604
NM_002582.3(PARN):c.[659+4_659+7delAGTA(;)863dupA]
NM_002582.4(PARN):c.1148C>T (p.Ala383Val) rs786200999
NM_015450.3(POT1):c.1294C>T (p.Arg432Ter) rs758341603
NM_015450.3(POT1):c.1507T>G (p.Cys503Gly)
NM_015450.3(POT1):c.1651G>A (p.Gly551Arg)
NM_015450.3(POT1):c.437C>T (p.Pro146Leu) rs1554426915
NM_015450.3(POT1):c.728G>A (p.Ser243Asn)
NM_017612.5(ZCCHC8):c.337G>A (p.Glu113Lys)
NM_017612.5(ZCCHC8):c.508G>A (p.Gly170Arg) rs1957578325
NM_017612.5(ZCCHC8):c.586G>A (p.Glu196Lys)
NM_017612.5(ZCCHC8):c.658G>C (p.Val220Leu)

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