ClinVar Miner

List of variants studied for epidermolysis bullosa simplex 6, generalized, with scarring and hair loss by OMIM

Included ClinVar conditions (1):
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Total variants: 6
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HGVS dbSNP gnomAD frequency
KLHL24, 1A-T
KLHL24, 2T-G
NM_017644.3(KLHL24):c.1A>G (p.Met1Val) rs886037956
NM_017644.3(KLHL24):c.2T>C (p.Met1Thr) rs1057515580
NM_017644.3(KLHL24):c.3G>A (p.Met1Ile) rs886037957
NM_017644.3(KLHL24):c.3G>T (p.Met1Ile) rs886037957

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