ClinVar Miner

Variants in gene combination LOC100507346, PTCH1 with conflicting interpretations reported as "likely benign and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 16
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HGVS dbSNP
NM_001083602.2(PTCH1):c.1610G>A (p.Arg537His) rs199523893
NM_001083602.2(PTCH1):c.1715G>A (p.Arg572His) rs145766839
NM_001083602.2(PTCH1):c.1791G>C (p.Gln597His) rs753002023
NM_001083602.2(PTCH1):c.1846C>T (p.Arg616Cys) rs570441437
NM_001083602.2(PTCH1):c.1852G>A (p.Glu618Lys) rs62637629
NM_001083602.2(PTCH1):c.1907C>G (p.Pro636Arg) rs368362152
NM_001083602.2(PTCH1):c.1975C>T (p.Pro659Ser) rs149258400
NM_001083602.2(PTCH1):c.1978C>T (p.Pro660Ser) rs758811078
NM_001083602.2(PTCH1):c.1985C>T (p.Thr662Met) rs115556836
NM_001083602.2(PTCH1):c.1986G>A (p.Thr662=) rs201103723
NM_001083602.2(PTCH1):c.2072T>C (p.Phe691Ser) rs547954117
NM_001083602.2(PTCH1):c.2106C>T (p.Thr702=) rs1805156
NM_001083602.2(PTCH1):c.2239C>G (p.Pro747Ala) rs45579032
NM_001083602.2(PTCH1):c.2262C>T (p.Tyr754=) rs766227557
NM_001083602.2(PTCH1):c.2286C>T (p.Asn762=) rs143305989
NM_001083602.2(PTCH1):c.2287G>A (p.Val763Met) rs201125580

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