ClinVar Miner

List of variants reported as pathogenic for FGFR3-related chondrodysplasia by GeneReviews

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
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HGVS dbSNP
NM_000142.4(FGFR3):c.1024G>T (p.Gly342Cys) rs587778775
NM_000142.4(FGFR3):c.1108G>T (p.Gly370Cys) rs121913479
NM_000142.4(FGFR3):c.1111A>T (p.Ser371Cys) rs121913484
NM_000142.4(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000142.4(FGFR3):c.1142T>A (p.Val381Glu) rs587778776
NM_000142.4(FGFR3):c.1612A>G (p.Ile538Val) rs80053154
NM_000142.4(FGFR3):c.1619A>C (p.Asn540Thr) rs77722678
NM_000142.4(FGFR3):c.1619A>G (p.Asn540Ser) rs77722678
NM_000142.4(FGFR3):c.1620C>A (p.Asn540Lys) rs28933068
NM_000142.4(FGFR3):c.1620C>G (p.Asn540Lys) rs28933068
NM_000142.4(FGFR3):c.1948A>C (p.Lys650Gln) rs78311289
NM_000142.4(FGFR3):c.1948A>G (p.Lys650Glu) rs78311289
NM_000142.4(FGFR3):c.1949A>C (p.Lys650Thr) rs121913105
NM_000142.4(FGFR3):c.1949A>T (p.Lys650Met) rs121913105
NM_000142.4(FGFR3):c.1950G>T (p.Lys650Asn) rs28928868
NM_000142.4(FGFR3):c.2419T>A (p.Ter807Arg) rs121913101
NM_000142.4(FGFR3):c.2419T>C (p.Ter807Arg) rs121913101
NM_000142.4(FGFR3):c.2419T>G (p.Ter807Gly) rs121913101
NM_000142.4(FGFR3):c.2420G>T (p.Ter807Leu) rs397515514
NM_000142.4(FGFR3):c.2421A>C (p.Ter807Cys) rs121913103
NM_000142.4(FGFR3):c.2421A>G (p.Ter807Trp) rs121913103
NM_000142.4(FGFR3):c.2421A>T (p.Ter807Cys) rs121913103
NM_000142.4(FGFR3):c.251C>T (p.Ser84Leu) rs121913116
NM_000142.4(FGFR3):c.597C>T (p.His199=) rs587778801
NM_000142.4(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000142.4(FGFR3):c.746C>G (p.Ser249Cys) rs121913483
NM_000142.4(FGFR3):c.801G>T (p.Leu267=) rs587778811
NM_000142.4(FGFR3):c.833A>G (p.Tyr278Cys) rs121913115
NM_000142.4(FGFR3):c.970C>G (p.Leu324Val) rs587778816
NM_000142.4(FGFR3):c.983A>T (p.Asn328Ile) rs587778817
NM_000142.4:c.783A>C
NM_001163213.1(FGFR3):c.344A>T (p.Gln115Leu) rs587778769
NM_001163213.1(FGFR3):c.791C>T (p.Thr264Met) rs587778773
NP_000133.1(FGFR3):p.Gly65Arg

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