ClinVar Miner

List of variants reported as likely benign for Premature aging syndrome, Penttinen type; Basal ganglia calcification, idiopathic, 4; Infantile myofibromatosis; Kosaki overgrowth syndrome

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Total variants: 30
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HGVS dbSNP
NM_002609.4(PDGFRB):c.1244-4G>A rs1580805805
NM_002609.4(PDGFRB):c.1279C>T (p.Pro427Ser) rs199873101
NM_002609.4(PDGFRB):c.1472T>C (p.Val491Ala) rs540480924
NM_002609.4(PDGFRB):c.1504C>T (p.Arg502Trp) rs142992960
NM_002609.4(PDGFRB):c.1536C>T (p.Asn512=)
NM_002609.4(PDGFRB):c.1554G>T (p.Thr518=) rs371192118
NM_002609.4(PDGFRB):c.1563C>T (p.Val521=) rs1580804718
NM_002609.4(PDGFRB):c.1776G>A (p.Thr592=)
NM_002609.4(PDGFRB):c.1818C>T (p.Leu606=) rs199649903
NM_002609.4(PDGFRB):c.2058C>T (p.Tyr686=) rs753622898
NM_002609.4(PDGFRB):c.2169G>T (p.Gly723=)
NM_002609.4(PDGFRB):c.2199C>T (p.Thr733=) rs192355633
NM_002609.4(PDGFRB):c.2238C>T (p.Asp746=) rs555800957
NM_002609.4(PDGFRB):c.2466C>T (p.Cys822=) rs55830572
NM_002609.4(PDGFRB):c.263C>T (p.Thr88Ile) rs147303614
NM_002609.4(PDGFRB):c.2655C>T (p.Asp885=) rs144234864
NM_002609.4(PDGFRB):c.2874C>T (p.Leu958=)
NM_002609.4(PDGFRB):c.2919G>A (p.Val973=) rs370594710
NM_002609.4(PDGFRB):c.2960G>A (p.Arg987Gln) rs35731372
NM_002609.4(PDGFRB):c.2972G>A (p.Arg991His) rs75748462
NM_002609.4(PDGFRB):c.2997A>T (p.Arg999=) rs776113877
NM_002609.4(PDGFRB):c.3033C>T (p.Ala1011=) rs375836509
NM_002609.4(PDGFRB):c.3204C>T (p.Asp1068=) rs141511317
NM_002609.4(PDGFRB):c.396C>T (p.Ala132=) rs751600349
NM_002609.4(PDGFRB):c.42C>T (p.Gly14=)
NM_002609.4(PDGFRB):c.541G>A (p.Gly181Ser)
NM_002609.4(PDGFRB):c.581T>C (p.Ile194Thr) rs2229560
NM_002609.4(PDGFRB):c.615T>C (p.Tyr205=)
NM_002609.4(PDGFRB):c.726G>C (p.Val242=) rs149027530
NM_002609.4(PDGFRB):c.963G>A (p.Glu321=)

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