ClinVar Miner

List of variants reported as uncertain significance for alpha-mannosidosis by Invitae

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 31
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HGVS dbSNP
NM_000528.4(MAN2B1):c.1114G>T (p.Val372Leu) rs745579139
NM_000528.4(MAN2B1):c.1230+5G>T rs1398531876
NM_000528.4(MAN2B1):c.1273G>T (p.Val425Leu) rs141650075
NM_000528.4(MAN2B1):c.128C>A (p.Ala43Glu)
NM_000528.4(MAN2B1):c.1668C>A (p.Asp556Glu) rs766513928
NM_000528.4(MAN2B1):c.1753C>T (p.Arg585Cys)
NM_000528.4(MAN2B1):c.1906C>T (p.Pro636Ser)
NM_000528.4(MAN2B1):c.1933_1935del (p.Asn645del) rs1599344435
NM_000528.4(MAN2B1):c.1945G>T (p.Gly649Cys)
NM_000528.4(MAN2B1):c.1961A>G (p.Asp654Gly)
NM_000528.4(MAN2B1):c.2101G>A (p.Val701Ile) rs561720564
NM_000528.4(MAN2B1):c.2194C>T (p.Arg732Cys)
NM_000528.4(MAN2B1):c.224T>A (p.Val75Glu) rs938995975
NM_000528.4(MAN2B1):c.2355+6T>A rs1052970162
NM_000528.4(MAN2B1):c.2389C>T (p.Arg797Cys)
NM_000528.4(MAN2B1):c.2401G>T (p.Gly801Cys) rs142702682
NM_000528.4(MAN2B1):c.2431C>T (p.Leu811Phe)
NM_000528.4(MAN2B1):c.2506G>C (p.Ala836Pro)
NM_000528.4(MAN2B1):c.2516G>A (p.Arg839Gln)
NM_000528.4(MAN2B1):c.2639A>G (p.Asn880Ser)
NM_000528.4(MAN2B1):c.2767G>A (p.Val923Ile) rs755553683
NM_000528.4(MAN2B1):c.2849G>A (p.Arg950His)
NM_000528.4(MAN2B1):c.2856G>A (p.Gln952=)
NM_000528.4(MAN2B1):c.2896T>G (p.Ser966Ala)
NM_000528.4(MAN2B1):c.2917A>G (p.Asn973Asp) rs148080695
NM_000528.4(MAN2B1):c.2966A>G (p.Asn989Ser) rs753397171
NM_000528.4(MAN2B1):c.62C>A (p.Pro21His)
NM_000528.4(MAN2B1):c.718C>T (p.Arg240Trp) rs201448121
NM_000528.4(MAN2B1):c.880G>A (p.Asp294Asn)
NM_000528.4(MAN2B1):c.910G>A (p.Gly304Ser)
NM_000528.4(MAN2B1):c.94C>A (p.Leu32Ile)

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