ClinVar Miner

List of variants reported as benign for Holoprosencephaly sequence by Illumina Clinical Services Laboratory,Illumina

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Minimum conflict level:
ClinVar version:
Total variants: 32
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HGVS dbSNP
NM_001083602.2(PTCH1):c.*2275T>A rs28380046
NM_001083602.2(PTCH1):c.*3030A>G rs28485160
NM_001083602.2(PTCH1):c.*664dup rs111365480
NM_001083602.2(PTCH1):c.2362+9G>C rs2066829
NM_001083602.2(PTCH1):c.3746C>T (p.Pro1249Leu) rs357564
NM_003244.3(TGIF1):c.-33C>A rs238132
NM_003923.2(FOXH1):c.-314T>G rs750472
NM_003923.3(FOXH1):c.*20A>G rs2721176
NM_005270.4(GLI2):c.*816G>C rs2278741
NM_005270.4(GLI2):c.3466G>T (p.Ala1156Ser) rs3738880
NM_005270.4(GLI2):c.3916G>A (p.Asp1306Asn) rs12711538
NM_005270.4(GLI2):c.3939A>G (p.Pro1313=) rs10167980
NM_005270.4(GLI2):c.801G>A (p.Ser267=) rs2592595
NM_016952.4(CDON):c.*1933A>G rs2509616
NM_016952.4(CDON):c.*2740T>C rs2186754
NM_016952.4(CDON):c.*2830A>G rs1065398
NM_016952.4(CDON):c.*3490T>C rs11220285
NM_016952.4(CDON):c.*3765C>T rs1047070
NM_016952.4(CDON):c.*3884T>G rs13424
NM_016952.4(CDON):c.*4135C>T rs4937076
NM_016952.4(CDON):c.2037G>A (p.Ala679=) rs516664
NM_016952.4(CDON):c.223G>A (p.Val75Ile) rs3740912
NM_016952.4(CDON):c.3039C>T (p.Asn1013=) rs684805
NM_016952.4(CDON):c.3165T>C (p.Asn1055=) rs564214
NM_016952.4(CDON):c.3294G>A (p.Thr1098=) rs3740904
NM_016952.4(CDON):c.3549C>T (p.Val1183=) rs2276061
NM_016952.4(CDON):c.3662T>A (p.Ile1221Asn) rs684535
NM_018055.5(NODAL):c.*722G>C rs2279254
NM_018055.5(NODAL):c.*740T>C rs2279253
NM_018055.5(NODAL):c.193+12C>T rs10999338
NM_018055.5(NODAL):c.494A>G (p.His165Arg) rs1904589
NM_170695.4(TGIF1):c.*274del rs34622075

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