ClinVar Miner

List of variants studied for PERCHING syndrome

Included ClinVar conditions (2):
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001031710.3(KLHL7):c.352C>T (p.Leu118=) rs15775 0.44258
NM_001031710.3(KLHL7):c.121-5814A>G rs17147682 0.02041
NM_001031710.3(KLHL7):c.793+5G>C rs375718274 0.00004
NM_001031710.3(KLHL7):c.1051C>T (p.Arg351Ter) rs746612410 0.00001
NM_001031710.3(KLHL7):c.1258C>T (p.Arg420Cys) rs780705654 0.00001
NM_001031710.3(KLHL7):c.565C>T (p.Arg189Ter) rs943339467 0.00001
NM_001031710.3(KLHL7):c.976C>T (p.Arg326Ter) rs77078070 0.00001
NM_001031710.3(KLHL7):c.1022del (p.Leu341fs) rs879255557
NM_001031710.3(KLHL7):c.1114C>T (p.Arg372Ter) rs769053076
NM_001031710.3(KLHL7):c.1115G>A (p.Arg372Gln) rs879255558
NM_001031710.3(KLHL7):c.1261T>A (p.Cys421Ser) rs879255556
NM_001031710.3(KLHL7):c.178GTT[1] (p.Val61del) rs1554286093
NM_001031710.3(KLHL7):c.223+5G>C rs2128460058
NM_001031710.3(KLHL7):c.254T>G (p.Val85Gly)
NM_001031710.3(KLHL7):c.618+1G>A rs1554289078
NM_001031710.3(KLHL7):c.619-349A>G
NM_001031710.3(KLHL7):c.642G>C (p.Trp214Cys)
NM_001031710.3(KLHL7):c.807C>A (p.Tyr269Ter) rs1784553913
NM_001031710.3(KLHL7):c.815T>C (p.Leu272Pro) rs2128466903
NM_001031710.3(KLHL7):c.936+3731_936+3735del rs141774430
NM_001031710.3(KLHL7):c.944del (p.Ser315fs) rs2128469474

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