List of variants in gene PTCH1 reported as uncertain significance by Fulgent Genetics, Fulgent Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 35

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HGVS	dbSNP	gnomAD frequency
NM_000264.5(PTCH1):c.3919C>T (p.Pro1307Ser)	rs574880967	0.00021
NM_000264.5(PTCH1):c.2671G>A (p.Gly891Ser)	rs570091335	0.00012
NM_000264.5(PTCH1):c.181G>A (p.Ala61Thr)	rs150069331	0.00008
NM_000264.5(PTCH1):c.3734A>G (p.Gln1245Arg)	rs767792734	0.00007
NM_000264.5(PTCH1):c.2635G>A (p.Asp879Asn)	rs750373573	0.00004
NM_000264.5(PTCH1):c.3436G>A (p.Asp1146Asn)	rs749542089	0.00004
NM_000264.5(PTCH1):c.3575G>A (p.Arg1192His)	rs762040036	0.00004
NM_000264.5(PTCH1):c.4024C>T (p.Arg1342Cys)	rs781539921	0.00004
NM_001083603.3(PTCH1):c.157G>C (p.Glu53Gln)	rs185570125	0.00004
NM_000264.5(PTCH1):c.4321C>T (p.Pro1441Ser)	rs746800536	0.00003
NM_000264.5(PTCH1):c.1351G>A (p.Ala451Thr)	rs142791675	0.00002
NM_000264.5(PTCH1):c.3124G>A (p.Val1042Met)	rs772406487	0.00002
NM_000264.5(PTCH1):c.3929G>A (p.Gly1310Asp)	rs773043616	0.00002
NM_000264.5(PTCH1):c.4235C>T (p.Pro1412Leu)	rs766849993	0.00002
NM_000264.5(PTCH1):c.4313A>G (p.Glu1438Gly)	rs150696398	0.00002
NM_000264.5(PTCH1):c.901G>A (p.Asp301Asn)	rs767601899	0.00002
NM_000264.5(PTCH1):c.1138G>A (p.Glu380Lys)	rs772903899	0.00001
NM_000264.5(PTCH1):c.1298C>A (p.Ser433Tyr)	rs778455544	0.00001
NM_000264.5(PTCH1):c.1646C>T (p.Ala549Val)	rs759078774	0.00001
NM_000264.5(PTCH1):c.203G>A (p.Gly68Glu)	rs757430199	0.00001
NM_000264.5(PTCH1):c.2676C>G (p.Ser892Arg)	rs1427672162	0.00001
NM_000264.5(PTCH1):c.4043A>G (p.Asn1348Ser)	rs371943557	0.00001
NM_000264.5(PTCH1):c.4049G>A (p.Arg1350Gln)	rs978722722	0.00001
NM_000264.5(PTCH1):c.4115C>T (p.Thr1372Met)	rs765348942	0.00001
NM_000264.5(PTCH1):c.412C>T (p.Arg138Cys)	rs139535966	0.00001
NM_000264.5(PTCH1):c.4138G>A (p.Ala1380Thr)	rs111481152	0.00001
NM_000264.5(PTCH1):c.4162G>A (p.Gly1388Arg)	rs587778631	0.00001
NM_000264.5(PTCH1):c.1546T>G (p.Phe516Val)	rs1554698288
NM_000264.5(PTCH1):c.3733C>G (p.Gln1245Glu)	rs1838213882
NM_000264.5(PTCH1):c.3908G>T (p.Arg1303Leu)	rs779365332
NM_000264.5(PTCH1):c.3964G>A (p.Ala1322Thr)	rs896779358
NM_000264.5(PTCH1):c.4051A>G (p.Asn1351Asp)	rs786204103
NM_000264.5(PTCH1):c.667C>A (p.Leu223Ile)	rs1266754583
NM_000264.5(PTCH1):c.949C>T (p.Leu317Phe)	rs1380199153
NM_001083603.3(PTCH1):c.74del (p.Pro25fs)	rs1350435311

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