List of variants in gene PTCH1 reported as likely benign for Holoprosencephaly 7

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_000264.5(PTCH1):c.3583A>T (p.Thr1195Ser)	rs2236405	0.04656
NM_000264.5(PTCH1):c.3692T>C (p.Val1231Ala)	rs182045135	0.00128
NM_000264.5(PTCH1):c.4048C>T (p.Arg1350Trp)	rs140417636	0.00086
NM_000264.5(PTCH1):c.1306G>A (p.Asp436Asn)	rs142274954	0.00083
NM_000264.5(PTCH1):c.3805-9C>T	rs2236404	0.00072
NM_000264.5(PTCH1):c.2787C>T (p.Asn929=)	rs145196322	0.00065
NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser)	rs113663584	0.00057
NM_000264.5(PTCH1):c.1503+12G>A	rs368083214	0.00056
NM_000264.5(PTCH1):c.3954G>A (p.Pro1318=)	rs45529536	0.00054
NM_000264.5(PTCH1):c.3947A>G (p.Tyr1316Cys)	rs147067171	0.00051
NM_000264.5(PTCH1):c.3907C>T (p.Arg1303Cys)	rs56102979	0.00041
NM_000264.5(PTCH1):c.*1889G>A	rs565918654	0.00037
NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln)	rs56023271	0.00036
NM_000264.5(PTCH1):c.*787C>T	rs144656847	0.00030
NM_000264.5(PTCH1):c.1216-6C>A	rs186008764	0.00027
NM_000264.5(PTCH1):c.4033C>T (p.Arg1345Cys)	rs556901417	0.00025
NM_000264.5(PTCH1):c.3919C>T (p.Pro1307Ser)	rs574880967	0.00021
NM_000264.5(PTCH1):c.3617G>A (p.Arg1206His)	rs560967532	0.00017
NM_000264.5(PTCH1):c.567T>C (p.His189=)	rs150759973	0.00016
NM_000264.5(PTCH1):c.3839C>T (p.Ser1280Leu)	rs201595274	0.00014
NM_000264.5(PTCH1):c.4240G>A (p.Val1414Met)	rs149667902	0.00014
NM_000264.5(PTCH1):c.3908G>A (p.Arg1303His)	rs779365332	0.00010
NM_000264.5(PTCH1):c.3648C>T (p.Ser1216=)	rs377608291	0.00006
NM_000264.5(PTCH1):c.1710G>T (p.Leu570=)	rs374924167	0.00004
NM_000264.5(PTCH1):c.4024C>T (p.Arg1342Cys)	rs781539921	0.00004
NM_000264.5(PTCH1):c.*153T>C	rs576864680	0.00003
NM_000264.5(PTCH1):c.1348-4G>A	rs772826555	0.00003
NM_000264.5(PTCH1):c.3192G>A (p.Thr1064=)	rs751797047	0.00003
NM_000264.5(PTCH1):c.3006G>A (p.Thr1002=)	rs142362404	0.00002
NM_000264.5(PTCH1):c.3423G>A (p.Ala1141=)	rs745948150

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