ClinVar Miner

List of variants studied for Kallmann syndrome 2; Pfeiffer syndrome by Invitae

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Total variants: 25
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HGVS dbSNP
NM_023110.2(FGFR1):c.1064G>C (p.Trp355Ser) rs1563474845
NM_023110.2(FGFR1):c.1285-8C>A rs1235765985
NM_023110.2(FGFR1):c.1343G>A (p.Arg448Gln) rs758138124
NM_023110.2(FGFR1):c.1368G>T (p.Met456Ile) rs200776757
NM_023110.2(FGFR1):c.1430+1G>A rs1554552774
NM_023110.2(FGFR1):c.1540A>C (p.Lys514Gln)
NM_023110.2(FGFR1):c.160C>T (p.Arg54Cys) rs778531708
NM_023110.2(FGFR1):c.1888C>T (p.Leu630=) rs746123129
NM_023110.2(FGFR1):c.2106C>T (p.Pro702=) rs777061347
NM_023110.2(FGFR1):c.214C>T (p.Gln72Ter) rs1554570813
NM_023110.2(FGFR1):c.2186+8C>T rs372639138
NM_023110.2(FGFR1):c.2187-6C>T rs4647904
NM_023110.2(FGFR1):c.2262G>A (p.Leu754=) rs56341011
NM_023110.2(FGFR1):c.2292+3A>G rs747737281
NM_023110.2(FGFR1):c.2314C>T (p.Pro772Ser) rs56234888
NM_023110.2(FGFR1):c.232C>T (p.Arg78Cys) rs1554570706
NM_023110.2(FGFR1):c.2464C>T (p.Arg822Cys) rs17182463
NM_023110.2(FGFR1):c.304G>A (p.Val102Ile) rs55642501
NM_023110.2(FGFR1):c.320C>T (p.Ser107Leu) rs140382957
NM_023110.2(FGFR1):c.345C>T (p.Ser115=) rs2915665
NM_023110.2(FGFR1):c.350A>G (p.Asn117Ser)
NM_023110.2(FGFR1):c.448+1G>A
NM_023110.2(FGFR1):c.471C>G (p.Ser157=) rs376497452
NM_023110.2(FGFR1):c.600C>T (p.Asp200=) rs17175898
NM_023110.2(FGFR1):c.755C>G (p.Pro252Arg) rs121909627

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