ClinVar Miner

List of variants reported as likely pathogenic by Practice for Gait Abnormalities, David Pomarino,Competency Network Toe Walking c/o Practice Pomarino

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ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_000051.4(ATM):c.8545C>T rs587778080
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_002693.2(POLG):c.2481-7C>T rs2307448
NM_004444.5(EPHB4):c.1405G>A (p.Val469Ile) rs775083333
NM_024577.3(SH3TC2):c.505T>C (p.Tyr169His) rs80359890
NM_024577.4(SH3TC2):c.3380G>A rs139192433
NM_030962.3(SBF2):c.2197C>G (p.Gln733Glu) rs145199888
NM_030962.3(SBF2):c.2323G>A (p.Gly775Ser) rs141330687
NM_030962.3(SBF2):c.2476G>A (p.Val826Ile) rs1564917788
NM_181882.3(PRX):c.1905A>C (p.Lys635Asn)

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