ClinVar Miner

List of variants studied for Simpson-Golabi-Behmel syndrome by Baylor Genetics

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_004484.4(GPC3):c.797A>G (p.Gln266Arg) rs765072095 0.00001
GRCh37/hg19 Xq26.1-26.2(chrX:130280298-132670366)
NM_003611.3(OFD1):c.1424C>T (p.Pro475Leu)
NM_003611.3(OFD1):c.368T>C (p.Leu123Pro)
NM_003611.3(OFD1):c.400_403del (p.Glu134fs) rs312262830
NM_003611.3(OFD1):c.604_609del (p.Glu202_Tyr203del) rs1602826132
NM_004484.4(GPC3):c.-1G>C rs2076564315
NM_004484.4(GPC3):c.1454A>C (p.Asp485Ala) rs2069918325
NM_004484.4(GPC3):c.1640A>G (p.Asn547Ser) rs2069289549
NM_004484.4(GPC3):c.467T>A (p.Ile156Asn) rs2124480768

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