ClinVar Miner

List of variants in gene LOC100507346, PTCH1 studied for Holoprosencephaly sequence

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Total variants: 12
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HGVS dbSNP
NM_001083602.2(PTCH1):c.1610G>A (p.Arg537His) rs199523893
NM_001083602.2(PTCH1):c.1649+14C>T rs202007968
NM_001083602.2(PTCH1):c.1656C>T (p.Cys552=) rs62637628
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.2001A>G (p.Ser667=) rs2227970
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.2262C>T (p.Tyr754=) rs766227557
NM_001083602.2(PTCH1):c.2286C>T (p.Asn762=) rs143305989
NM_001083602.2(PTCH1):c.2362+11G>A rs774494594
NM_001083602.2(PTCH1):c.2362+9G>C rs2066829

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